Go to
JCI Insight
Citations to this article
R O Brady, … , R M Bradley, D Shapiro
Published July 1, 1966
Citation Information: J Clin Invest. 1966;45(7):1112-1115. https://doi.org/10.1172/JCI105417.
Citation Information: J Clin Invest. 1966;45(7):1112-1115. https://doi.org/10.1172/JCI105417.
Abstract
Authors
R O Brady, J N Kanfer, R M Bradley, D Shapiro
Total citations by year
| Year: | 2025 | 2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2001 | 2000 | 1999 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990 | 1989 | 1988 | 1986 | 1985 | 1984 | 1983 | 1982 | 1981 | 1980 | 1979 | 1978 | 1977 | 1976 | 1975 | 1974 | 1973 | 1972 | 1971 | 1970 | 1969 | 1968 | 1967 | 1966 | 1960 | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Citations: | 3 | 4 | 4 | 6 | 6 | 9 | 19 | 17 | 9 | 3 | 13 | 5 | 8 | 6 | 11 | 12 | 4 | 2 | 7 | 10 | 7 | 4 | 7 | 3 | 1 | 3 | 3 | 1 | 1 | 3 | 4 | 1 | 4 | 1 | 1 | 3 | 1 | 2 | 4 | 3 | 3 | 1 | 3 | 2 | 5 | 8 | 3 | 8 | 9 | 8 | 9 | 7 | 10 | 7 | 7 | 3 | 1 | 1 | 310 |
Citation information
Citations to this article (310)
| Title and authors | Publication | Year |
|---|---|---|
|
Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys
Revel-Vilk S, Ramaswami U, Pintos-Morell G, Hughes D, Nicholls K, Reisin R, Giugliani R, Goker-Alpan O, Istaiti M, Gill A, Scarpa M, Botha J |
Orphanet Journal of Rare Diseases | 2025 |
|
Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion
Belinsky G, Ruan J, Fattahi N, Mehta S, Boddupalli CS, Mistry PK, Nair S |
Human Molecular Genetics | 2025 |
|
Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy
Geard AF, Massaro G, Hughes MP, Arbuthnot P, Waddington SN, Rahim AA |
Pharmaceutics | 2025 |
|
Advancements in Viral Gene Therapy for Gaucher Disease
Kulkarni A, Chen T, Sidransky E, Han TU |
Genes & development | 2024 |
|
A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach
Feng S, Rcheulishvili N, Jiang X, Zhu P, Pan X, Wei M, Wang PG, Ji Y, Papukashvili D |
International journal of biological sciences | 2024 |
|
Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.
Eskes ECB, van Dussen L, Aerts JMFG, van der Lienden MJC, Maas M, Akkerman EM, van Kuilenburg ABP, Sjouke B, Hollak CEM |
JIMD reports | 2024 |
|
6-O-alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols
Bannink S, Bila KO, van Weperen J, Ligthart NA, Ferraz MJ, Boot RG, van der Vliet D, Boer DE, Overkleeft HS, Artola M, Aerts JM |
Journal of Lipid Research | 2024 |
|
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.
Dubiela P, Szymańska-Rożek P, Eljaszewicz A, Lipiński P, Hasiński P, Giersz D, Walewska A, Tynecka M, Moniuszko M, Tylki-Szymańska A |
Biomolecules | 2023 |
|
Fluorescence polarisation activity-based protein profiling for the identification of deoxynojirimycin-type inhibitors selective for lysosomal retaining alpha- and beta-glucosidases.
van der Gracht D, Rowland RJ, Roig-Zamboni V, Ferraz MJ, Louwerse M, Geurink PP, Aerts JMFG, Sulzenbacher G, Davies GJ, Overkleeft HS, Artola M |
Chemical Science | 2023 |
|
GBA1 Variants and Parkinson's Disease: Paving the Way for Targeted Therapy.
Huh YE, Usnich T, Scherzer CR, Klein C, Chung SJ |
Journal of Movement Disorders | 2023 |
|
Glycosylation Shapes the Efficacy and Safety of Diverse Protein, Gene and Cell Therapies
Rocamora F, Peralta AG, Shin S, Sorrentino J, Wu M, Toth EA, Fuerst TR, Lewis NE |
Biotechnology Advances | 2023 |
|
Roles of α-Synuclein and Disease-Associated Factors in Drosophila Models of Parkinson's Disease.
Suzuki M, Sango K, Nagai Y |
International journal of molecular sciences | 2022 |
|
Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.
Arévalo NB, Lamaizon CM, Cavieres VA, Burgos PV, Álvarez AR, Yañez MJ, Zanlungo S |
Frontiers in molecular neuroscience | 2022 |
|
Clinical Sphingolipids Pathway in Parkinson's Disease: From GCase to Integrated-Biomarker Discovery.
Esfandiary A, Finkelstein DI, Voelcker NH, Rudd D |
Cells | 2022 |
|
Biological Variation in Peripheral Inflammation and Oxidative Stress Biomarkers in Individuals with Gaucher Disease.
Sahasrabudhe SA, Terluk MR, Rudser KD, Cloyd JC, Kartha RV |
International journal of molecular sciences | 2022 |
|
Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.
Furderer ML, Hertz E, Lopez GJ, Sidransky E |
International journal of molecular sciences | 2022 |
|
Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications.
Linari S, Castaman G |
Journal of Clinical Medicine | 2022 |
|
Ceramide Transfer Protein (CERT): An Overlooked Molecular Player in Cancer
LH Chung, D Liu, XT Liu, Y Qi |
International journal of molecular sciences | 2021 |
|
Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity
A Durán, B Rebolledo-Jaramillo, V Olguin, M Rojas-Herrera, ML Heras, JF Calderón, S Zanlungo, DA Priestman, FM Platt, AD Klein |
Biochemistry and Biophysics Reports | 2021 |
|
Recent advances in activity-based probes (ABPs) and affinity-based probes (A f BPs) for profiling of enzymes
H Fang, B Peng, SY Ong, Q Wu, L Li, SQ Yao |
Chemical Science | 2021 |
|
Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
EC Eskes, MJ Lienden, JJ Roelofs, L Vogt, JM Aerts, J Aten, CE Hollak |
JIMD reports | 2021 |
|
Design, Synthesis and Structural Analysis of Glucocerebrosidase Imaging Agents
RJ Rowland, Y Chen, I Breen, L Wu, WA Offen, TJ Beenakker, Q Su, AM Nieuwendijk, JM Aerts, M Artola, HS Overkleeft, GJ Davies |
Chemistry - A European Journal | 2021 |
|
Design, Synthesis and Structural Analysis of Glucocerebrosidase Imaging Agents.
Rowland RJ, Chen Y, Breen I, Wu L, Offen WA, Beenakker TJ, Su Q, van den Nieuwendijk AMCH, Aerts JMFG, Artola M, Overkleeft HS, Davies GJ |
Chemistry (Weinheim an der Bergstrasse, Germany) | 2021 |
|
Glucocerebrosidase: Functions in and Beyond the Lysosome
DE Boer, J van Smeden, JA Bouwstra, JM Aerts |
Journal of Clinical Medicine | 2020 |
|
The Role of Cholesterol in α‐Synuclein and Lewy Body Pathology in GBA1 Parkinson's Disease
P GarcíaSanz, J Aerts, R Moratalla |
Movement disorders : official journal of the Movement Disorder Society | 2020 |
|
Lyso-glycosphingolipids: presence and consequences
M van Eijk, MJ Ferraz, RG Boot, JM Aerts |
Essays in Biochemistry | 2020 |
|
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
A Malekkou, I Sevastou, G Mavrikiou, T Georgiou, L Vilageliu, M Moraitou, H Michelakakis, C Prokopiou, A Drousiotou |
Molecular Genetics & Genomic Medicine | 2020 |
|
Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review
S Revel-Vilk, M Fuller, A Zimran |
International journal of molecular sciences | 2020 |
|
A baculoviral system for the production of human β-glucocerebrosidase enables atomic resolution analysis
RJ Rowland, L Wu, F Liu, GJ Davies |
Acta Crystallographica Section D-Structural Biology | 2020 |
|
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers
EC Eskes, B Sjouke, FM Vaz, SM Goorden, AB van Kuilenburg, JM Aerts, CE Hollak |
Molecular Genetics and Metabolism | 2020 |
|
Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis
A Crivaro, C Bondar, JM Mucci, M Ormazabal, RA Feldman, MV Delpino, PA Rozenfeld |
Molecular Genetics and Metabolism | 2020 |
|
LRRK2 and the Endolysosomal System in Parkinson’s Disease
ML Erb, DJ Moore |
Journal of Parkinson's disease | 2020 |
|
Bioactive Ceramides in Health and Disease: Intertwined Roles of Enigmatic Lipids
J Stiban |
2019 | |
|
Bioactive Ceramides in Health and Disease: Intertwined Roles of Enigmatic Lipids
J Stiban |
2019 | |
|
Bioactive Ceramides in Health and Disease: Intertwined Roles of Enigmatic Lipids
J Stiban |
2019 | |
|
Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish
LT Lelieveld, M Mirzaian, CL Kuo, M Artola, MJ Ferraz, RE Peter, H Akiyama, P Greimel, RJ van den Berg, HS Overkleeft, RG Boot, AH Meijer, JM Aerts |
Journal of lipid research | 2019 |
|
The Effect of Resveratrol on Neurodegenerative Disorders: Possible Protective Actions Against Autophagy, Apoptosis, Inflammation and Oxidative Stress
MH Pourhanifeh, R Shafabakhsh, RJ Reiter, Z Asemi |
Current pharmaceutical design | 2019 |
|
Glycosphingolipids and Infection. Potential New Therapeutic Avenues
JM Aerts, M Artola, M van Eijk, MJ Ferraz, RG Boot |
Frontiers in Cell and Developmental Biology | 2019 |
|
mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells
RA Brown, A Voit, MP Srikanth, JA Thayer, TJ Kingsbury, MA Jacobson, MM Lipinski, RA Feldman, O Awad |
Disease models & mechanisms | 2019 |
|
In vivo inactivation of glycosidases by conduritol B epoxide and cyclophellitol as revealed by activity-based protein profiling
CL Kuo, WW Kallemeijn, LT Lelieveld, M Mirzaian, I Zoutendijk, A Vardi, AH Futerman, AH Meijer, HP Spaink, HS Overkleeft, JM Aerts, M Artola |
The FEBS journal | 2019 |
|
Splenic Artery Aneurysms, A Rare Complication of Type 1 Gaucher Disease: Report of Five Cases
C Serratrice, TM Cox, V Leguy-Seguin, E Morris, K Yousfi, O Monnet, A Sibert, W Allaham, N Belmatoug |
Journal of Clinical Medicine | 2019 |
|
Functionalized cyclophellitols are selective glucocerebrosidase inhibitors and induce a bona fide neuropathic Gaucher model in zebrafish
M Artola, CL Kuo, LT Lelieveld, RJ Rowland, GA van der Marel, JD Codée, RG Boot, GJ Davies, JM Aerts, HS Overkleeft |
Journal of the American Chemical Society | 2019 |
|
Localization of active endogenous and exogenous β‐glucocerebrosidase by correlative light‐electron microscopy in human fibroblasts
E van Meel, E Bos, MJ van der Lienden, HS Overkleeft, SI van Kasteren, AJ Koster, JM Aerts |
Traffic (Copenhagen, Denmark) | 2019 |
|
A case of bony lytic lesions in a patient with Gaucher disease
E McGinnis, HM Razavi |
Clinical Case Reports | 2019 |
|
Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease
JM Aerts, CL Kuo, LT Lelieveld, DE Boer, MJ van der Lienden, HS Overkleeft, M Artola |
Current Opinion in Chemical Biology | 2019 |
|
Expanding the clinical utility of glucosylsphingosine for Gaucher disease
JT Saville, BK McDermott, SJ Chin, JM Fletcher, M Fuller |
Journal of Inherited Metabolic Disease | 2019 |
|
Arylsulfatase A, a genetic modifier of Parkinson’s disease, is an α-synuclein chaperone
JS Lee, K Kanai, M Suzuki, WS Kim, HS Yoo, YH Fu, DK Kim, BC Jung, M Choi, KW Oh, Y Li, M Nakatani, T Nakazato, S Sekimoto, M Funayama, H Yoshino, S Kubo, K Nishioka, R Sakai, M Ueyama, H Mochizuki, HJ Lee, SP Sardi, GM Halliday, Y Nagai, PH Lee, N Hattori, SJ Lee |
Brain | 2019 |
|
On the road to unraveling the molecular functions of ether lipids
N JiménezRojo, H Riezman |
FEBS Letters | 2019 |
|
Heat Shock Protein 90 in Human Diseases and Disorders
AA Asea, P Kaur |
2019 | |
|
Novel stereoselective syntheses of N -octyl-β-valienamine (NOV) and N -octyl-4- epi -β-valienamine (NOEV) from (−)-shikimic acid
FL Li, JP Yu, W Ding, MM Sun, YG He, XL Zhu, SL Liu, XX Shi |
RSC Advances | 2019 |
|
Novel stereoselective syntheses of N-octyl-β-valienamine (NOV) and N-octyl-4-epi-β-valienamine (NOEV) from (-)-shikimic acid.
Li FL, Yu JP, Ding W, Sun MM, He YG, Zhu XL, Liu SL, Shi XX |
RSC Advances | 2019 |
|
Distinguishing the differences in β-glycosylceramidase folds, dynamics, and actions informs therapeutic uses
FB Bdira, M Artola, HS Overkleeft, M Ubbink, JM Aerts |
Journal of lipid research | 2018 |
|
Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition
LM Panicker, MP Srikanth, T Castro-Gomes, D Miller, NW Andrews, RA Feldman |
Human Molecular Genetics | 2018 |
|
Lysosomes, autophagosomes and Alzheimer pathology in dementia with Lewy body disease: protein degradation in Lewy body disease
R Gurney, YS Davidson, AC Robinson, A Richardson, M Jones, JS Snowden, DM Mann |
Neuropathology : official journal of the Japanese Society of Neuropathology | 2018 |
|
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings
T Bremova-Ertl, R Schiffmann, MC Patterson, N Belmatoug, TB de Villemeur, S Bardins, C Frenzel, V Malinová, S Naumann, J Arndt, E Mengel, J Reinke, R Strobl, M Strupp |
Frontiers in neurology | 2018 |
|
Molecular docking and ADME properties of bioactive molecules against human acid-beta-glucosidase enzyme, cause of Gaucher’s disease
V Subramaniyan, S Mathiyalagan, A Praveenkumar, P Srinivasan, M Palani, V Ravichandran, P Nallasamy |
In Silico Pharmacology | 2018 |
|
The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease
MÁ Torralba-Cabeza, S Olivera-González, JL Sierra-Monzón |
Diseases | 2018 |
|
How we manage Gaucher Disease in the era of choices
S Revel-Vilk, J Szer, A Mehta, A Zimran |
British Journal of Haematology | 2018 |
|
A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum
R Sidhu, CR Mikulka, H Fujiwara, MS Sands, JE Schaffer, DS Ory, X Jiang |
Biomedical Chromatography | 2018 |
|
Recent advances in the diagnosis and management of Gaucher disease
SE Gary, E Ryan, AM Steward, E Sidransky |
Expert Review of Endocrinology & Metabolism | 2018 |
|
Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay
P Wolf, RN Alcalay, C Liong, E Cullen, MW Pauciulo, WC Nichols, Z Gan-Or, WK Chung, T Faulkner, C Bentis, RJ Pomponio, X Ma, XK Zhang, JM Keutzer, P Oliva |
Molecular Genetics and Metabolism | 2018 |
|
Developmental Neuropathology
H Adle-Biassette, BN Harding, J Golden |
2018 | |
|
Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease
MC Reed, Y Bauernfreund, N Cunningham, B Beaton, AB Mehta, DA Hughes |
Gene | 2018 |
|
Glycoprotein Non-Metastatic Protein B: An Emerging Biomarker for Lysosomal Dysfunction in Macrophages
M van der Lienden, P Gaspar, R Boot, J Aerts, M van Eijk |
International journal of molecular sciences | 2018 |
|
Pharmacological treatment of pediatric Gaucher disease
P Gupta, G Pastores |
Expert Review of Clinical Pharmacology | 2018 |
|
Successful Drug Discovery
J Fischer, C Klein, WE Childers |
Successful Drug Discovery | 2018 |
|
Fat‐fated microglial dysfunction
A Silvin, F Ginhoux |
The EMBO Journal | 2018 |
|
Use of zebrafish models to investigate rare human disease
KI Adamson, E Sheridan, AJ Grierson |
Journal of medical genetics | 2018 |
|
Roscoe O. Brady: Physician whose pioneering discoveries in lipid biochemistry revolutionized treatment and understanding of lysosomal diseases
JM Aerts, TM Cox |
Blood Cells, Molecules, and Diseases | 2017 |
|
Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes
WW Kallemeijn, S Scheij, S Hoogendoorn, MD Witte, DH Chao, CP van Roomen, R Ottenhoff, HS Overkleeft, RG Boot, JM Aerts, A Dardis |
PloS one | 2017 |
|
Altered Differentiation Potential of Gaucher’s Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation
O Awad, LM Panicker, RM Deranieh, MP Srikanth, RA Brown, A Voit, T Peesay, TS Park, ET Zambidis, RA Feldman |
Stem Cell Reports | 2017 |
|
Stabilization of Glucocerebrosidase by Active Site Occupancy
FB Bdira, WW Kallemeijn, SV Oussoren, S Scheij, B Bleijlevens, BI Florea, CP van Roomen, R Ottenhoff, MJ van Kooten, MT Walvoort, MD Witte, RG Boot, M Ubbink, HS Overkleeft, JM Aerts |
ACS chemical biology | 2017 |
|
Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy
CI Ha, S DeArmey, H Cope, M Rairikar, PS Kishnani |
Molecular Genetics and Metabolism Reports | 2017 |
|
Osteoimmunology: The Conceptual Framework Unifying the Immune and Skeletal Systems
K Okamoto, T Nakashima, M Shinohara, T Negishi-Koga, N Komatsu, A Terashima, S Sawa, T Nitta, H Takayanagi |
Physiological reviews | 2017 |
|
The metabolism of glucocerebrosides — From 1965 to the present
AH Futerman, FM Platt |
Molecular Genetics and Metabolism | 2017 |
|
Enrichment of apoplastic fluid with therapeutic recombinant protein for efficient biofarming
A Chatterjee, NC Das, S Raha, IB Maiti, A Shrestha, A Khan, S Acharya, N Dey |
Biotechnology Progress | 2017 |
|
Long-term response in biochemical markers of bone turnover during enzyme replacement therapy in a case-series of patients with Gaucher disease type I from Northern Greece
E Vargiami, M Dimitriadou, M Economou, A Christoforidis, D I Zafeiriou |
Hippokratia | 2017 |
|
Lysosomes: Biology, Diseases, and Therapeutics: Biology, Diseases, and Therapeutics
S Lu, B Jessen, Y Will, G Stevens |
Lysosomes: Biology, Diseases, and Therapeutics: Biology, Diseases, and Therapeutics | 2016 |
|
Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease
MA Torralba, S Olivera, JC Bureo, J Dalmau, R Nuñez, P León, J Villarrubia |
QJM | 2016 |
|
Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy
C Serratrice, S Carballo, J Serratrice, J Stirnemann |
Core evidence | 2016 |
|
Clinical manifestations and management of Gaucher disease
S Linari |
Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases | 2015 |
|
Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice
M Dahl, A Doyle, K Olsson, JE Månsson, AR Marques, M Mirzaian, JM Aerts, M Ehinger, M Rothe, U Modlich, A Schambach, S Karlsson |
Molecular Therapy | 2015 |
|
Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle
SP Sardi, SH Cheng, LS Shihabuddin |
Progress in Neurobiology | 2015 |
|
Evaluation of bone involvement in patients with Gaucher disease: a semi-quantitative magnetic resonance imaging method (using ROI estimation of bone lesion) as an alternative method to semi-quantitative methods used so far
V Komninaka, D Kolomodi, D Christoulas, T Marinakis, A Papatheodorou, K Repa, E Voskaridou, K Revenas, E Terpos |
European Journal of Haematology | 2015 |
|
Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?
B Fedida, S Touraine, J Stirnemann, N Belmatoug, JD Laredo, D Petrover |
European Radiology | 2015 |
|
Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool
M Fuller, J Szer, S Stark, JM Fletcher |
Clinica Chimica Acta | 2015 |
|
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
R Schiffmann |
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease | 2015 |
|
Novel treatment approaches for lysosomal disorders
TM Cox |
Best Practice & Research Clinical Endocrinology & Metabolism | 2015 |
|
Transplantation of the Liver
JG O’Leary, JF Trotter |
Transplantation of the Liver | 2015 |
|
Defective Self-Renewal and Differentiation of GBA-Deficient Neural Stem Cells Can Be Restored By Macrophage Colony-Stimulating Factor
H Lee, J Bae, HK Jin |
Molecules and Cells | 2015 |
|
Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment
DL van Dyke, A Milunsky |
Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment | 2015 |
|
Biobetters
A Rosenberg, B Demeule |
2015 | |
|
Enzyme replacement and substrate reduction therapy for Gaucher disease.
Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, Cox TM |
The Cochrane Database of Systematic Reviews | 2015 |
|
A Sensitive Gel-based Method Combining Distinct Cyclophellitol-based Probes for the Identification of Acid/Base Residues in Human Retaining -Glucosidases
WW Kallemeijn, MD Witte, TM Voorn-Brouwer, MT Walvoort, KY Li, JD Codee, GA van der Marel, RG Boot, HS Overkleeft, JM Aerts |
The Journal of biological chemistry | 2014 |
|
Histone deacetylases and their inhibitors in cancer, neurological diseases and immune disorders
KJ Falkenberg, RW Johnstone |
Nature Reviews Drug Discovery | 2014 |
|
Gaucher disease: haematological presentations and complications
AS Thomas, A Mehta, DA Hughes |
British Journal of Haematology | 2014 |
|
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses
MJ Ferraz, WW Kallemeijn, M Mirzaian, DH Moro, A Marques, P Wisse, RG Boot, LI Willems, HS Overkleeft, JM Aerts |
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids | 2014 |
|
The LIMP-2/SCARB2 Binding Motif on Acid β-Glucosidase: BASIC AND APPLIED IMPLICATIONS FOR GAUCHER DISEASE AND ASSOCIATED NEURODEGENERATIVE DISEASES
B Liou, WD Haffey, KD Greis, GA Grabowski |
The Journal of biological chemistry | 2014 |
|
Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones
C Yang, CL Swallows, C Zhang, J Lu, H Xiao, RO Brady, Z Zhuang |
Proceedings of the National Academy of Sciences | 2013 |
|
Cell cycle arrest in Batten disease lymphoblast cells
S Kang, JB Kim, TH Heo, SJ Kim |
Gene | 2013 |
|
Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease
S Lee, HJ Kim, SY Jeong, JM Hwang |
Journal of the Korean Ophthalmological Society | 2013 |
|
Gaucher Disease: Basic and Clinical Perspectives
Y Sun, W Zhang |
Gaucher Disease: Basic and Clinical Perspectives | 2013 |
|
Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report
F Binesh, A Yousefi, M Ordooei, M Bagherinasab |
2013 | |
|
Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye
T Suzuki, M Shimoda, K Ito, S Hanai, H Aizawa, T Kato, K Kawasaki, T Yamaguchi, HD Ryoo, N Goto-Inoue, M Setou, S Tsuji, N Ishida, A Dardis |
PloS one | 2013 |
|
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
N Blau, M Duran, KM Gibson, CD Vici |
2013 | |
|
99m Tc-Sestamibi Scintigraphy to Monitor the Long-Term Efficacy of Enzyme Replacement Therapy on Bone Marrow Infiltration in Patients with Gaucher Disease
PA Erba, F Minichilli, F Giona, S Linari, J Dambrosia, A Pierini, M Filocamo, MD Rocco, F Buffoni, RO Brady, G Mariani |
Journal of Nuclear Medicine | 2013 |
|
Ceramide function in the brain: when a slight tilt is enough
C Mencarelli, P Martinez–Martinez |
Cellular and Molecular Life Sciences | 2012 |
|
Imiglucerase in the treatment of Gaucher disease: a history and perspective
PB Deegan, TM Cox |
Drug design, development and therapy | 2012 |
|
Genetic and metabolic liver disease
RJ Thompson, BC Portmann, EA Roberts |
MacSween s Pathology of the Liver | 2012 |
|
Methods in Enzymology
JD Stone, AS Chervin, DH Aggen, DM Kranz |
Protein Engineering for Therapeutics Part B | 2012 |
|
MacSween's Pathology of the Liver
RJ Thompson, BC Portmann, EA Roberts |
MacSween's Pathology of the Liver | 2012 |
|
Novel Activity-Based Probes for Broad-Spectrum Profiling of Retaining β-Exoglucosidases In Situ and In Vivo
WW Kallemeijn, KY Li, MD Witte, AR Marques, J Aten, S Scheij, J Jiang, LI Willems, TM Voorn-Brouwer, CP van Roomen, R Ottenhoff, RG Boot, H van den Elst, MT Walvoort, BI Florea, JD Codée, GA van der Marel, JM Aerts, HS Overkleeft |
Angewandte Chemie International Edition | 2012 |
|
CNS expression of glucocerebrosidase corrects -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
SP Sardi, J Clarke, C Kinnecom, TJ Tamsett, L Li, LM Stanek, MA Passini, GA Grabowski, MG Schlossmacher, RL Sidman, SH Cheng, LS Shihabuddin |
Proceedings of the National Academy of Sciences | 2011 |
|
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
JM Aerts, WW Kallemeijn, W Wegdam, MJ Ferraz, MJ van Breemen, N Dekker, G Kramer, BJ Poorthuis, JE Groener, J Cox-Brinkman, SM Rombach, CE Hollak, GE Linthorst, MD Witte, H Gold, GA van der Marel, HS Overkleeft, RG Boot |
Journal of Inherited Metabolic Disease | 2011 |
|
Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type ia.
Mollet-Boudjemline A, Hubert-Buron A, Boyer-Neumann C, Aldea R, Franco D, Trioche-Eberschweiller P, Mas AE, Mabille M, Labrune P, Gajdos V |
JIMD reports | 2011 |
|
Protective effect of recombinant human erythropoietin in type II Gaucher disease patient cells by scavenging endoplasmic reticulum stress
JR Cha, SJ Kim, TH Heo |
Biomedicine & Pharmacotherapy | 2011 |
|
Advances in Clinical Chemistry
M Mahler |
Advances in Clinical Chemistry Volume 54 | 2011 |
|
Protective potential of resveratrol against oxidative stress and apoptosis in Batten disease lymphoblast cells
DH Yoon, OY Kwon, JY Mang, MJ Jung, DY Kim, YK Park, TH Heo, SJ Kim |
Biochemical and Biophysical Research Communications | 2011 |
|
Protective effect of catechin in type I Gaucher disease cells by reducing endoplasmic reticulum stress
YJ Lee, SJ Kim, TH Heo |
Biochemical and Biophysical Research Communications | 2011 |
|
Bone involvement as presenting sign of pediatric-onset Gaucher disease
L Rossi, F Zulian, J Stirnemann, TB de Villemur, N Belmatoug |
Joint Bone Spine | 2011 |
|
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease
J Lu, C Yang, M Chen, DY Ye, RR Lonser, RO Brady, Z Zhuang |
Proceedings of the National Academy of Sciences | 2011 |
|
The Saccadic and Neurological Deficits in Type 3 Gaucher Disease
W Benko, M Ries, EA Wiggs, RO Brady, R Schiffmann, EJ FitzGibbon, A Meisel |
PloS one | 2011 |
|
Successful screening for Gaucher disease in a high-prevalence population in tabuleiro do Norte (northeastern Brazil): a cross-sectional study.
Chaves RG, Coelho JC, Michelin-Tirelli K, Maurício TF, de Freitas Maia Chaves E, de Almeida PC, Maurício CR, Cavalcanti GB Jr |
JIMD reports | 2011 |
|
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase
R Khanna, ER Benjamin, L Pellegrino, A Schilling, BA Rigat, R Soska, H Nafar, BE Ranes, J Feng, Y Lun, AC Powe, DJ Palling, BA Wustman, R Schiffmann, DJ Mahuran, DJ Lockhart, KJ Valenzano |
FEBS Journal | 2010 |
|
Protein Misfolding Diseases
P Chakrabarty, P Das, TE Golde |
Protein Misfolding Diseases | 2010 |
|
Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy
J Marshall, KA McEachern, WL Chuang, E Hutto, CS Siegel, JA Shayman, GA Grabowski, RK Scheule, DP Copeland, SH Cheng |
Journal of Inherited Metabolic Disease | 2010 |
|
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl
J Lu, J Chiang, RR Iyer, E Thompson, CR Kaneski, DS Xu, C Yang, M Chen, RJ Hodes, RR Lonser, RO Brady, Z Zhuang |
Proceedings of the National Academy of Sciences | 2010 |
|
Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly
S Dahl, E Mengel |
Best Practice & Research Clinical Gastroenterology | 2010 |
|
Ultrasensitive in situ visualization of active glucocerebrosidase molecules
MD Witte, WW Kallemeijn, J Aten, KY Li, A Strijland, WE Donker-Koopman, AM van Nieuwendijk, B Bleijlevens, G Kramer, BI Florea, B Hooibrink, CE Hollak, R Ottenhoff, RG Boot, GA van der Marel, HS Overkleeft, JM Aerts |
Nature Chemical Biology | 2010 |
|
X-ray and Biochemical Analysis of N370S Mutant Human Acid β-Glucosidase
RR Wei, H Hughes, S Boucher, JJ Bird, N Guziewicz, SM van Patten, H Qiu, CQ Pan, T Edmunds |
The Journal of biological chemistry | 2010 |
|
Benefits from Unearthing “a Biochemical Rosetta Stone”
RO Brady |
The Journal of biological chemistry | 2010 |
|
Cochrane Database of Systematic Reviews: Reviews
N Shafiq, M Singh, S Kaur, P Khosla, S Malhotra, N Shafiq |
Cochrane Database of Systematic Reviews: Reviews | 2010 |
|
Atteinte osseuse révélatrice d’une maladie de Gaucher chez l’enfant
L Rossi, F Zulian, J Stirnemann, TB de Villemur, N Belmatoug |
Revue du Rhumatisme | 2010 |
|
Identification of Potent and Selective Glucosylceramide Synthase Inhibitors from a Library of N-Alkylated Iminosugars
A Ghisaidoobe, P Bikker, AC de Bruijn, FD Godschalk, E Rogaar, MC Guijt, P Hagens, JM Halma, SM van't Hart, SB Luitjens, VH van Rixel, M Wijzenbroek, T Zweegers, WE Donker-Koopman, A Strijland, R Boot, G van der Marel, HS Overkleeft, JM Aerts, RJ van den Berg |
ACS Medicinal Chemistry Letters | 2010 |
|
Ultrasensitive in situ visualization of active glucocerebrosidase molecules
MD Witte, WW Kallemeijn, J Aten, KY Li, A Strijland, WE Donker-Koopman, AM van den Nieuwendijk, B Bleijlevens, G Kramer, BI Florea, B Hooibrink, CE Hollak, R Ottenhoff, RG Boot, GA van der Marel, HS Overkleeft, JM Aerts |
Nature Chemical Biology | 2010 |
|
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd |
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2009 |
|
Gaucher disease: a model disorder for biomarker discovery
RG Boot, MJ van Breemen, W Wegdam, RR Sprenger, S Jong, D Speijer, CE Hollak, LV Dussen, HC Hoefsloot, AK Smilde, CG de Koster, JP Vissers, JM Aerts |
Expert Review of Proteomics | 2009 |
|
Successful Low-Risk Hematopoietic Cell Therapy in a Mouse Model of Type 1 Gaucher Disease
IB Enquist, E Nilsson, JE Månsson, M Ehinger, J Richter, S Karlsson |
Stem Cells | 2009 |
|
Lysosomal disorders: From storage to cellular damage
A Ballabio, V Gieselmann |
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | 2009 |
|
Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease
JM Aerts, MJ van Breemen, AP Bussink, K Ghauharali, R Sprenger, RG Boot, JE Groener, CE Hollak, M Maas, S Smit, HC Hoefsloot, AK Smilde, JP Vissers, S Jong, D Speijer, CG de Koster |
Acta Paediatrica | 2008 |
|
Quantitative Relationship Between Mutated Structure of Human Glucosylceramidase and Gaucher Disease Status
S Yan, G Wu |
International Journal of Peptide Research and Therapeutics | 2008 |
|
Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention
PJ Meikle, PD Whitfield, T Rozaklis, D Blacklock, S Duplock, D Elstein, A Zimran, E Mengel, P Cannell, JJ Hopwood, M Fuller |
Blood cells, molecules & diseases | 2007 |
|
Murine models of acute neuronopathic Gaucher disease
IB Enquist, CL Bianco, A Ooka, E Nilsson, JE Månsson, M Ehinger, J Richter, RO Brady, D Kirik, S Karlsson |
Proceedings of the National Academy of Sciences | 2007 |
|
MINIREVIEW: Pharmacologic chaperoning as a strategy to treat Gaucher disease
Z Yu, AR Sawkar, JW Kelly |
FEBS Journal | 2007 |
|
Actualité et utilité des biomarqueurs pour le suivi de la maladie de Gaucher
I Maire, N Guffon, R Froissart |
La Revue de Médecine Interne | 2007 |
|
Home therapy for lysosomal storage disorders
DA Hughes, A Milligan, A Mehta |
British Journal of Nursing | 2007 |
|
Lysosomal Storage Disorders
JA Barranger, MA Cabrera-Salazar |
2007 | |
|
Treatment of Lysosomal Storage Disorders: Progress with Enzyme Replacement Therapy
M Rohrbach, JT Clarke |
Drugs | 2007 |
|
Upregulation of Proinflammatory Cytokines in the Fetal Brain of the Gaucher Mouse
YB Hong, EY Kim, SC Jung |
Journal of Korean Medical Science | 2006 |
|
Effective cell and gene therapy in a murine model of Gaucher disease
IB Enquist, E Nilsson, A Ooka, JE Månsson, K Olsson, M Ehinger, RO Brady, J Richter, S Karlsson |
Proceedings of the National Academy of Sciences | 2006 |
|
Advances in Enzymology - and Related Areas of Molecular Biology
H Waelsch |
Advances in Enzymology and Related Areas of Molecular Biology | 2006 |
|
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms
RA Steet, S Chung, B Wustman, A Powe, H Do, SA Kornfeld |
Proceedings of the National Academy of Sciences | 2006 |
|
Substrate reduction therapy of glycosphingolipid storage disorders
JM Aerts, CE Hollak, RG Boot, JE Groener, M Maas |
Journal of Inherited Metabolic Disease | 2006 |
|
Enzyme Replacement for Lysosomal Diseases*
RO Brady |
Annual Review of Medicine | 2006 |
|
Encyclopedia of Molecular Cell Biology and Molecular Medicine
E Beutler |
Encyclopedia of Molecular Cell Biology and Molecular Medicine | 2006 |
|
Inborn errors of metabolism: the flux from Mendelian to complex diseases
B Lanpher, N Brunetti-Pierri, B Lee |
Nature Reviews Genetics | 2006 |
|
Emerging Strategies for the Treatment of Hereditary Metabolic Storage Disorders
RO Brady |
Rejuvenation Research | 2006 |
|
Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase
R Steet, S Chung, WS Lee, CW Pine, H Do, S Kornfeld |
Biochemical Pharmacology | 2006 |
|
Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease
RR Lonser, S Walbridge, GJ Murray, MR Aizenberg, AO Vortmeyer, JM Aerts, RO Brady, EH Oldfield |
Annals of Neurology | 2005 |
|
Long-term expression of the human glucocerebrosidase genein vivo after transplantation of bone-marrow-derived cells transformed with a lentivirus vector
EY Kim, YB Hong, Z Lai, YH Cho, RO Brady, SC Jung |
The Journal of Gene Medicine | 2005 |
|
Lysosomal storage disorders
A Vellodi |
British Journal of Haematology | 2005 |
|
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease
M Schmitz, M Alfalah, JM Aerts, HY Naim, KP Zimmer |
The International Journal of Biochemistry & Cell Biology | 2005 |
|
Liver Transplantation for Metabolic Disease
SV Mcdiarmid |
Transplantation of the Liver | 2005 |
|
The blood–brain barrier and treatment of lysosomal storage diseases
JM Aerts, MJ Breemen, AP Bussink, J Brinkman, CE Hollak, M Langeveld, GE Linthorst, AC Vedder, M Fost |
International Congress Series | 2005 |
|
Immunoquantification of β-Glucosidase: Diagnosis and Prediction of Severity in Gaucher Disease
M Fuller, M Lovejoy, JJ Hopwood, PJ Meikle |
Clinical chemistry | 2005 |
|
Neuropathology provides clues to the pathophysiology of Gaucher disease
K Wong, E Sidransky, A Verma, T Mixon, GD Sandberg, LK Wakefield, A Morrison, A Lwin, C Colegial, JM Allman, R Schiffmann |
Molecular Genetics and Metabolism | 2004 |
|
Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease
EY Kim, YB Hong, Z Lai, HJ Kim, YH Cho, RO Brady, SC Jung |
Biochemical and Biophysical Research Communications | 2004 |
|
Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector
YB Hong, EY Kim, HW Yoo, SC Jung |
Journal of Human Genetics | 2004 |
|
Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: a possible role in the neuronal loss
YB Hong, EY Kim, SC Jung |
Journal of Human Genetics | 2004 |
|
Enzyme replacement therapy reduces Gaucher cell burden but may accelerate osteopenia in patients with type I disease - a histological study
Z Rudzki, K Okon, M Machaczka, M Rucinska, B Papla, AB Skotnicki |
European Journal of Haematology | 2003 |
|
Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies
RO Brady |
Acta Paediatrica | 2003 |
|
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3
UH Schueler, T Kolter, CR Kaneski, JK Blusztajn, M Herkenham, K Sandhoff, RO Brady |
Neurobiology of Disease | 2003 |
|
Lung Biology in Health and Disease
N Zamel |
Lung Biology in Health and Disease: Experimental Models and Therapeutic Potential | 2003 |
|
Efecto del tratamiento enzimático sustitutivo sobre el perfil lipídico en pacientes con enfermedad de Gaucher
P Alfonso, A Cenarro, JI Pérez-Calvo, J Puzo, M Giralt, P Giraldo, M Pocoví |
Medicina Clínica | 2003 |
|
Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention
RA Dwek, TD Butters, FM Platt, TM Cox, JM Aerts, C Hollak, R Boot, A Groener |
Philosophical Transactions of The Royal Society B Biological Sciences | 2003 |
|
Enzyme replacement therapy: conception, chaos and culmination
RA Dwek, TD Butters, FM Platt, TM Cox, RO Brady |
Philosophical Transactions of The Royal Society B Biological Sciences | 2003 |
|
Mutation Prevalence among 51 Unrelated Spanish Patients with Gaucher Disease: Identification of 11 Novel Mutations
P Alfonso, A Cenarro, JI Pérez-Calvo, M Giralt, P Giraldo, M Pocovı́ |
Blood Cells, Molecules, and Diseases | 2001 |
|
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher’s disease
G Altarescu, S Hill, E Wiggs, N Jeffries, C Kreps, CC Parker, RO Brady, NW Barton, R Schiffmann |
The Journal of Pediatrics | 2001 |
|
Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses
TM Cox |
Journal of Inherited Metabolic Disease | 2001 |
|
Comparative Efficacy of Dose Regimens in Enzyme Replacement Therapy of Type I Gaucher Disease
G Altarescu, R Schiffmann, CC Parker, DF Moore, C Kreps, RO Brady, NW Barton |
Blood Cells, Molecules, and Diseases | 2000 |
|
Bone marrow–derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases
ON Koç, C Peters, P Aubourg, S Raghavan, S Dyhouse, R DeGasperi, EH Kolodny, Y BenYoseph, SL Gerson, HM Lazarus, AI Caplan, PA Watkins, W Krivit |
Experimental Hematology | 1999 |
|
Diffuse Lung Disorders
M Sperber |
1999 | |
|
Delivery, distribution, and neuronal uptake of exogenous mannose-terminal glucocerebrosidase in the intact rat brain
G C Zirzow, O A Sanchez, G J Murray, R O Brady, E H Oldfield |
Neurochemical Research | 1999 |
|
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease
R Schiffmann, MP Heyes, JM Aerts, JM Dambrosia, MC Patterson, T DeGraba, CC Parker, GC Zirzow, K Oliver, G Tedeschi, RO Brady, NW Barton |
Annals of Neurology | 1997 |
|
Retrovirus-Mediated Transfer of the cDNA for Human Glucocerebrosidase into Peripheral Blood Repopulating Cells of Patients with Gaucher's Disease. University of Wisconsin, Madison, Wisconsin
F Schuening |
Human Gene Therapy | 1997 |
|
1 Gaucher's disease: past, present and future
RO Brady |
Baillière's Clinical Haematology | 1997 |
|
Retroviral Mediated Transfer of the cDNA for Human Glucocerebrosidase into Hematopoietic Stem Cells of Patients with Gaucher Disease. A Phase I Study. National Institutes of Health, Bethesda, Maryland
C Dunbar, D Kohn, S Karlsson, N Barton, R Brady, M Cottler-Fox, G Crooks, R Emmons, J Esplin, S Leitman, C Lenarsky, J Nolta, R Parkman, M Pensiero, R Schifmann, P Tolstoshev, K Weinberg |
Human Gene Therapy | 1996 |
|
Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes
GJ Murray, KL Oliver, FS Jin, RO Brady |
Journal of Cellular Biochemistry | 1995 |
|
Mutation analysis of 28 Gaucher disease patients: The Australasian experience
BD Lewis, PV Nelson, EF Robertson, CP Morris |
American Journal of Medical Genetics | 1994 |
|
Glucocerebrosidase for treatment of Gaucher's disease: first German long-term results
C Niederau, A Holderer, T Heintges, G Strohmeyer |
Journal of Hepatology | 1994 |
|
Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry
S Miao, JD McCarter, ME Grace, GA Grabowski, R Aebersold, SG Withers |
The Journal of biological chemistry | 1994 |
|
Cell migration and chimerism after whole-organ transplantation: The basis of graft acceptance
TE Starzl, AJ Demetris, M Trucco, N Murase, C Ricordi, S Ildstad, H Ramos, S Todo, A Tzakis, JJ Fung, M Nalesnik, A Zeevi, WA Rudert, M Kocova |
Hepatology | 1993 |
|
Chronic uveitis in Gaucher's disease
J Raz, I Anteby, N Livni, D Benezra |
Ocular Immunology and Inflammation | 1993 |
|
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease
TE Starzl, AJ Demetris, M Trucco, C Ricordi, S Ildstad, PI Terasaki, N Murase, RS Kendall, M Kocova, WA Rudert |
The New England journal of medicine | 1993 |
|
Cell migration and chimerism after whole-organ transplantation: the basis of graft acceptance
TE Starzl, AJ Demetris, M Trucco, N Murase, C Ricordi, S Ildstad, H Ramos, S Todo, A Tzakis, JJ Fung |
Hepatology | 1993 |
|
Polymorphisms in the human glucocerebrosidase gene
E Beutler, C West, T Gelbart |
Genomics | 1992 |
|
Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease
NW Barton, RO Brady, JM Dambrosia, AM di Bisceglie, SH Doppelt, SC Hill, HJ Mankin, GJ Murray, RI Parker, CE Argoff, RP Grewal, KT Yu |
New England Journal of Medicine | 1991 |
|
Gaucher's disease: lack of antibody response in 12 patients following repeated intravenous infusions of mannose terminal glucocerebrosidase
GJ Murray, KD Howard, SM Richards, NW Barton, RO Brady |
Journal of Immunological Methods | 1991 |
|
Lectins and Cancer
HJ Gabius, S Gabius |
1991 | |
|
Hemorrhage associated with ?bone crisis? in Gaucher's disease identified by magnetic resonance imaging
G Horev, L Kornreich, H Hadar, K Katz |
Skeletal Radiology | 1991 |
|
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder
A Zimran, J Sorge, E Gross, M Kubitz, C West, E Beutler |
Journal of Clinical Investigation | 1990 |
|
PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL
A Zimran, E Gross, C West, J Sorge, M Kubitz, E Beutler |
The Lancet | 1989 |
|
Gaucher disease
E Beutler |
Blood Reviews | 1988 |
|
Advances in Genetics
BH Bowman, F Yang, GS Adrian |
Advances in genetics | 1988 |
|
Ultrastructural Pathology of the Cell and Matrix
FN Ghadially |
Ultrastructural Pathology of the Cell and Matrix | 1988 |
|
Genetic Disorders and the Fetus
A Milunsky |
1986 | |
|
Glucosylceramidase from Calf Spleen. Characterization of its Active Site with 4-n-Alkylumbelliferyl (β-glucosides andN-Alkyl Derivatives of 1-Deoxynojirimycin
G LEGLER, H LIEDTKE |
Biological Chemistry Hoppe-Seyler | 1985 |
|
The use of parenteral hyperalimentation and elemental formula feeding in the treatment of Wolman disease
WF Meyers, JM Hoeg, SJ Demosky, JJ Herbst, HB Brewer |
Nutrition Research | 1985 |
|
Sodium taurocholate effect on β-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes
J Magalhães, MC SáMiranda, R Pinto, M Lemos, L Poenaru |
Clinica Chimica Acta | 1984 |
|
Molecular Basis of Lysosomal Storage Disorders
RO Brady |
Molecular Basis of Lysosomal Storage Disorders | 1984 |
|
NIH: an Account of Research in its Laboratories and Clinics
WF Anderson |
NIH: an Account of Research in its Laboratories and Clinics | 1984 |
|
Gaucher disease: The effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts
FY Choy |
Human Genetics | 1984 |
|
Substrate Specificity of the Human Splenic Non-specific Soluble beta-Glucosidase
A MARET, R SALVAYRE, A NEGRE, L DOUSTE-BLAZY |
European Journal of Biochemistry | 1983 |
|
Metabolism in the Nervous System
A Lajtha |
1983 | |
|
Handbook of Neurochemistry
A Lajtha |
1983 | |
|
Acquired Gaucher's cells in Hodgkin's disease
KS Lee, MS Tobin, KT Chen, F Ahmed, G Gomez-Leon |
The American Journal of Medicine | 1982 |
|
Heterozygote detection of Type I Gaucher disease using blood platelets
S Nakagawa, S Kumin, G Sachs, HM Nitowsky |
Clinica Chimica Acta | 1982 |
|
Advances in Neurochemistry
BW Agranoff, MH Aprison |
1982 | |
|
Current Topics in Cellular Regulation
G Cahill, T Aoki, R Smith |
Current Topics in Cellular Regulation | 1981 |
|
Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease
SS Raghavan, J Topol, EH Kolodny |
The American Journal of Human Genetics | 1980 |
|
Gaucher's disease associated with Hodgkin's disease
AH Bruckstein, A Karanas, JJ DiRe |
The American Journal of Medicine | 1980 |
|
Biochemistry of Brain
N Colman, V Herbert |
Biochemistry of Brain | 1980 |
|
Studies on the possible identity of particulate β-glucosidase and β-xylosidase of mouse liver
MC Stephens, A Bernatsky, G Legler, JN Kanfer |
Biochimica et Biophysica Acta (BBA) - Enzymology | 1979 |
|
Demonstration of a deficiency of β-xylosidase activity in various forms of Gaucher's disease
YB Chiao, SP Peters, WF Diven, RE Lee, RH Glew |
Metabolism | 1979 |
|
THE GAUCHER MOUSE: DIFFERENTIAL ACTION OF CONDURITOL B EPOXIDE AND REVERSIBILITY OF ITS EFFECTS
MC Stephens, A Bernatsky, V Burachinsky, G Legler, JN Kanfer |
Journal of Neurochemistry | 1978 |
|
Gaucher disease: isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue
PG Pentchev, RO Brady, HE Blair, DE Britton, SH Sorrell |
Proceedings of the National Academy of Sciences | 1978 |
|
Acute neuropathic Gaucher disease in a black infant
J Forster, JP Chambers, SP Peters, RH Lee, RH Glew |
The Journal of Pediatrics | 1978 |
|
Molecular Basis of Biological Degradative Processes
HJ Müller-Eberhard |
Molecular Basis of Biological Degradative Processes | 1978 |
|
Leber und Gallenwege
F Bolck, G Machnik |
1978 | |
|
Glycosphingolipid hydrolases: Properties and molecular genetics
MW Ho, AG Norden, JA Alhadeff, JS O'brien |
Molecular and Cellular Biochemistry | 1977 |
|
Biochemie der Sphingolipidspeicherkrankheiten
K Sandhoff |
Angewandte Chemie | 1977 |
|
Cell-specific differences in membrane β-glucosidase from normal and gaucher cells
BM Turner, NG Beratis, K Hirschhorn |
Biochimica et Biophysica Acta (BBA) - Enzymology | 1977 |
|
Severe pulmonary involvement in adult Gaucher's disease
EL Schneider, CJ Epstein, MJ Kaback, D Brandes |
The American Journal of Medicine | 1977 |
|
The Glycoconjugates
A Lundblad |
The Glycoconjugates | 1977 |
|
Heritable catabolic and anabolic disorders of lipid metabolism
RO Brady |
Metabolism | 1977 |
|
Blood glucosylceramide levels in gaucher's disease and its distribution amongst lipoprotein fractions
G Dawson, JY Oh |
Clinica Chimica Acta | 1977 |
|
Pathology of the Female Genital Tract
A Blaustein |
1977 | |
|
HYDROLYTIC AND TRANSGLUCOLYTIC ACTIVITIES OF A PARTIALLY PURIFIED CALF BRAIN ?-GLUCOSIDASE
RA Mumford, SS Raghavan, JN Kanfer |
Journal of Neurochemistry | 1976 |
|
Inherited metabolic diseases of the nervous system
RO Brady |
Science | 1976 |
|
Current Trends in Sphingolipidoses and Allied Disorders
BW Volk, L Schneck |
1976 | |
|
Hydrolytic and transglucosylation activities of a purified calf spleen β-glucosidase
JN Kanfer, SS Raghavan, RA Mumford |
Biochimica et Biophysica Acta (BBA) - Enzymology | 1975 |
|
Deficiency of steroid β-glucosidase in Gaucher disease
JN Kanfer, SS Raghavan, RA Mumford, RS Labow, DG Williamson, DS Layne |
Biochemical and Biophysical Research Communications | 1975 |
|
The Gaucher mouse
JN Kanfer, G Legler, J Sullivan, SS Raghavan, RA Mumford |
Biochemical and Biophysical Research Communications | 1975 |
|
Hepatomegaly
WA Walker, RK Mathis |
Pediatric Clinics of North America | 1975 |
|
Biology of Brain Dysfunction
GE Gaull |
1975 | |
|
Experimental polymer storage disease in rabbits: An approach to the histogenesis of sphingolipidoses
K Miyasaki |
Virchows Archiv A Pathological Anatomy and Histopathology | 1975 |
|
Physiological and Pathological Variations in the Ultrastructure of Neutrophils and Monocytes
D Zucker-Franklin |
Clinics in Haematology | 1975 |
|
Metabolism of glucosyl [13H]ceramide by human skin fibroblasts from normal and glucosylceramidotic subjects
NW Barton, A Rosenberg |
The Journal of biological chemistry | 1975 |
|
Sphingolipidoses
K Sandhoff |
Journal of clinical pathology. Supplement (Royal College of Pathologists) | 1974 |
|
The chemistry and control of hereditary lipid diseases
RO Brady |
Chemistry and Physics of Lipids | 1974 |
|
The occurrence of beta-glucocerebrosidase activity in the glucocerebroside-rich deposits of Gaucher's disease
RH Glew, AR Christopher, FW Schnure, RE Lee |
Archives of Biochemistry and Biophysics | 1974 |
|
Evolution of enzyme replacement therapy for lipid storage diseases
RO Brady, AE Gal, PG Pentchev |
Life Sciences | 1974 |
|
Synthesis of glucosylceramide by purified calf spleen β-glucosidase
SS Raghavan, RA Mumford, JN Kanfer |
Biochemical and Biophysical Research Communications | 1974 |
|
Replacement Therapy for Inherited Enzyme Deficiency: Use of Purified Glucocerebrosidase in Gaucher's Disease
RO Brady, PG Pentchev, AE Gal, SR Hibbert, AS Dekaban |
New England Journal of Medicine | 1974 |
|
Esophageal varices in a 60-year-old man with Gaucher's disease
M Kozower, MM Kaplan, JN Kanfer, RA Norton, HJ Wolfe |
The American Journal of Digestive Diseases | 1974 |
|
Inhibition of β-Glucosidase by N-(n-Hexyl)-O-glucosylsphingosine in Cell Strains of Neurological Origin
G Dawson, AC Stoolmiller, NS Radin |
The Journal of biological chemistry | 1974 |
|
Isolation and characterization of glucosylsphingosine from Gaucher's spleen
SS Raghavan, RA Mumford, JN Kanfer |
Journal of lipid research | 1974 |
|
Alternate pathways of cerebroside catabolism
YN Lin, NS Radin |
Lipids | 1973 |
|
Hereditary Diseases?Causes, Cures, and Problems
RO Brady |
Angewandte Chemie (International ed. in English) | 1973 |
|
Erbkrankheiten _ Ursachen, Behandlung und Probleme
RO Brady |
Angewandte Chemie | 1973 |
|
Deficiency of glucosylsphingosine: -Glucosidase in Gaucher disease
SS Raghavan, RA Mumford, JN Kanfer |
Biochemical and Biophysical Research Communications | 1973 |
|
Infantile neurological Gaucher's disease in three siblings: An ultrastructural study
F Hernndez, M Bueno |
Virchows Archiv | 1973 |
|
Methods of Neurochemistry
R Fried |
1973 | |
|
Isolation and Characterization of Glucocerebrosidase from Human Placental Tissue
PG Pentchev, RO Brady, SR Hibbert, AE Gal, D Shapiro |
The Journal of biological chemistry | 1973 |
|
N-Hexyl-0-glucosyl sphingosine, an inhibitor of glucosyl ceramide, β-glucosidase
JS Erickson, NS Radin |
Journal of lipid research | 1973 |
|
Fate of Protein-Containing Liposomes Injected into Rats. An Approach to the Treatment of Storage Diseases
G Gregoriadis, BE Ryman |
European Journal of Biochemistry | 1972 |
|
The preparation of trihexosyl - and tetrahexosyl gangliosides specifically labeled in the n-acetylgalactosaminyl moiety
JM Quirk, JF Tallman, RO Brady |
Journal of Labelled Compounds | 1972 |
|
Lipidoses
RO Brady |
Biochimie | 1972 |
|
AN AUTOPSY CASE OF FABRY'S DISEASE**
R Machinami |
Pathology International | 1972 |
|
Infantile (type II) Gaucher's disease: In utero diagnosis and fetal pathology
RO Schneider, WG Ellis, RO Brady, JR McCulloch, CJ Epstein |
The Journal of Pediatrics | 1972 |
|
Current Topics in Biochemistry
RO Brady |
Current Topics in Biochemistry | 1972 |
|
Sphingolipids, Sphingolipidoses and Allied Disorders
BW Volk, SM Aronson |
1972 | |
|
Glycolipids, Glycoproteins, and Mucopolysaccharides of the Nervous System
V Zambotti, G Tettamanti, M Arrigoni |
1972 | |
|
Glycosphingolipids in Cultured Human Skin Fibroblasts
G Dawson, R Matalon, A Dorfman |
The Journal of biological chemistry | 1972 |
|
SPLENIC TRANSPLANTATION IN A CASE OF GAUCHER'S DISEASE
CG Groth, S Dreborg, PA Öckerman, L Svennerholm, L Hagenfeldt, B Löfström, K Samuelsson, B Werner, G Westberg |
The Lancet | 1971 |
|
The genetic mismanagement of complex lipid metabolism
RO Brady |
Bulletin of the New York Academy of Medicine | 1971 |
|
Hepatosplenomegaly with opisthotonus in an infant
RP Bolande, GD Timmons |
The Journal of Pediatrics | 1971 |
|
Identification of heterozygous carriers of lipid storage diseases
RO Brady, WG Johnson, BW Uhlendorf |
The American Journal of Medicine | 1971 |
|
Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis
RJ Desnick, G Dawson, SJ Desnick, CC Sweeley, W Krivit |
New England Journal of Medicine | 1971 |
|
Detection of Inborn Errors of Metabolism
DE Boggs |
Critical Reviews in Clinical Laboratory Sciences | 1971 |
|
Angiokeratoma corporis diffusum (fabry) ? lipoid-thesaurismose ?
G Goerz, KH Vogelberg, R Haensch |
Archives of Dermatological Research | 1971 |
|
Biochemical Relationships in the Neuronal Sphingolipidoses
DN Raine |
Developmental Medicine & Child Neurology | 1970 |
|
Enzymic defects in lipid-storage diseases
RO Brady |
Biochemical Journal | 1970 |
|
The metabolism of amino acids, peptides, and disulfides in lysosomes of fibroblasts cultured from normal individuals and those with cystinosis
JD Schulman, KH Bradley |
Journal of Experimental Medicine | 1970 |
|
Metabolic disorders of sphingolipid metabolism in man
RO Brady |
Chemistry and Physics of Lipids | 1970 |
|
Metabolic Conjugation and Metabolic Hydrolysis
JR Pasqualini |
Metabolic Conjugation and Metabolic Hydrolysis | 1970 |
|
Glycosphingolipids of animal tissue
E Måtensson |
Progress in the Chemistry of Fats and other Lipids | 1970 |
|
Prenatal Genetic Diagnosis
A Milunsky, JW Littlefield, JN Kanfer, EH Kolodny, VE Shih, L Atkins |
New England Journal of Medicine | 1970 |
|
Sphingolipid hydrolases in brain tissue of patients with generalized gangliodosis
RO Brady, JS O'Brien, RM Bradley, AE Gal |
Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism | 1970 |
|
β-Glucosidase activities in human tissues findings in Gaucher's disease
B Hultberg, PA Öckerman |
Clinica Chimica Acta | 1970 |
|
In Vivo Studies on Glycosphingolipid Metabolism in Porcine Blood
G Dawson, CC Sweeley |
The Journal of biological chemistry | 1970 |
|
Lactosylceramide galactosidase: Comparison with other sphingolipid hydrolases in developing rat brain
NS Radin, L Hof, RM Bradley, RO Brady |
Brain Research | 1969 |
|
The use of white cells as a source of diagnostic material for lipid storage diseases
RA Snyder, RO Brady |
Clinica Chimica Acta | 1969 |
|
Genetics and the Sphingolipidoses
RO Brady |
The Medical clinics of North America | 1969 |
|
Die infantile amaurotische Idiotie und verwandte Formen als Gangliosid-Speicherkrankheiten
K Sandhoff, H Jatzkewitz, G Peters |
Die Naturwissenschaften | 1969 |
|
Structural Neurochemistry
A Lajtha |
1969 | |
|
Chemical Architecture of the Nervous System
A Lajtha |
1969 | |
|
Concentrations of glycosyl ceramides in plasma and red cells in Fabry's disease, a glycolipid lipidosis
DE Vance, W Krivit, CC Sweeley |
Journal of lipid research | 1969 |
|
The lysosomal localization of sphingolipid hydrolases
NJ Weinreb, RO Brady, AL Tappel |
Biochimica et Biophysica Acta (BBA) - Enzymology | 1968 |
|
Genetic Heterogeneity
B Childs, VM der Kaloustian |
New England Journal of Medicine | 1968 |
|
Identity of β-glucosidase, β-xylosidase and one of the β-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-β-d-glycosides studies in cases of Gaucher's disease
PA Öckerman |
Biochimica et Biophysica Acta (BBA) - General Subjects | 1968 |
|
Cytogenetics and Genetics
PL Townes, MS Adams |
Pediatric Clinics of North America | 1968 |
|
Gaucher's Disease: A Genetic Disease Detected in Skin Fibroblast Cultures
BS Danes, AG Bearn |
Science | 1968 |
|
Glycosidases in the Nervous System
E Robins, HE Hirsch, SS Emmons |
The Journal of biological chemistry | 1968 |
|
Splenic lipids in Gaucher's disease
NG Kennaway, LI Woolf |
Journal of lipid research | 1968 |
|
Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood
JP Kampine, RO Bardy, JN Kanfer, M Feld, D Shapiro |
Science | 1967 |
|
Enzymatic Defect in Fabry's Disease: Ceramidetrihexosidase Deficiency
RO Brady, AE Gal, RM Bradley, E Martensson, AL Warshaw, L Laster |
New England Journal of Medicine | 1967 |
|
Lysosomes in disease
R K Chandra |
The Indian Journal of Pediatrics | 1967 |
|
Annotations
RK C |
The Indian Journal of Pediatrics | 1966 |
|
Methods of Biochemical Analysis: Glick/Methods
D Glick |
1960 |
Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)