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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
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Citations to this article (307)
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Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers
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Molecular Genetics and Metabolism | 2020 |
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Journal of Clinical Medicine | 2019 |
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Journal of the American Chemical Society | 2019 |
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Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease
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Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice
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European Journal of Haematology | 2015 |
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TM Cox |
Best Practice & Research Clinical Endocrinology & Metabolism | 2015 |
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The Journal of biological chemistry | 2014 |
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The Journal of biological chemistry | 2014 |
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Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones
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Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease
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Journal of the Korean Ophthalmological Society | 2013 |
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Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye
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99m Tc-Sestamibi Scintigraphy to Monitor the Long-Term Efficacy of Enzyme Replacement Therapy on Bone Marrow Infiltration in Patients with Gaucher Disease
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Journal of Nuclear Medicine | 2013 |
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Ceramide function in the brain: when a slight tilt is enough
C Mencarelli, P Martinez–Martinez |
Cellular and Molecular Life Sciences | 2012 |
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Imiglucerase in the treatment of Gaucher disease: a history and perspective
PB Deegan, TM Cox |
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Methods in Enzymology
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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 |
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CNS expression of glucocerebrosidase corrects -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
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Proceedings of the National Academy of Sciences | 2011 |
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Journal of Inherited Metabolic Disease | 2011 |
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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 |
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Erbkrankheiten _ Ursachen, Behandlung und Probleme
RO Brady |
Angewandte Chemie | 1973 |
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Deficiency of glucosylsphingosine: -Glucosidase in Gaucher disease
SS Raghavan, RA Mumford, JN Kanfer |
Biochemical and Biophysical Research Communications | 1973 |
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Infantile neurological Gaucher's disease in three siblings: An ultrastructural study
F Hernndez, M Bueno |
Virchows Archiv | 1973 |
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Methods of Neurochemistry
R Fried |
1973 | |
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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 |
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N-Hexyl-0-glucosyl sphingosine, an inhibitor of glucosyl ceramide, β-glucosidase
JS Erickson, NS Radin |
Journal of lipid research | 1973 |
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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 |
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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 |
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Lipidoses
RO Brady |
Biochimie | 1972 |
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AN AUTOPSY CASE OF FABRY'S DISEASE**
R Machinami |
Pathology International | 1972 |
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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 |
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Current Topics in Biochemistry
RO Brady |
Current Topics in Biochemistry | 1972 |
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Sphingolipids, Sphingolipidoses and Allied Disorders
BW Volk, SM Aronson |
1972 | |
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Glycolipids, Glycoproteins, and Mucopolysaccharides of the Nervous System
V Zambotti, G Tettamanti, M Arrigoni |
1972 | |
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Glycosphingolipids in Cultured Human Skin Fibroblasts
G Dawson, R Matalon, A Dorfman |
The Journal of biological chemistry | 1972 |
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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 |
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The genetic mismanagement of complex lipid metabolism
RO Brady |
Bulletin of the New York Academy of Medicine | 1971 |
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Hepatosplenomegaly with opisthotonus in an infant
RP Bolande, GD Timmons |
The Journal of Pediatrics | 1971 |
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Identification of heterozygous carriers of lipid storage diseases
RO Brady, WG Johnson, BW Uhlendorf |
The American Journal of Medicine | 1971 |
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Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis
RJ Desnick, G Dawson, SJ Desnick, CC Sweeley, W Krivit |
New England Journal of Medicine | 1971 |
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Detection of Inborn Errors of Metabolism
DE Boggs |
Critical Reviews in Clinical Laboratory Sciences | 1971 |
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Angiokeratoma corporis diffusum (fabry) ? lipoid-thesaurismose ?
G Goerz, KH Vogelberg, R Haensch |
Archives of Dermatological Research | 1971 |
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Biochemical Relationships in the Neuronal Sphingolipidoses
DN Raine |
Developmental Medicine & Child Neurology | 1970 |
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Enzymic defects in lipid-storage diseases
RO Brady |
Biochemical Journal | 1970 |
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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 |
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Metabolic disorders of sphingolipid metabolism in man
RO Brady |
Chemistry and Physics of Lipids | 1970 |
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Metabolic Conjugation and Metabolic Hydrolysis
JR Pasqualini |
Metabolic Conjugation and Metabolic Hydrolysis | 1970 |
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Glycosphingolipids of animal tissue
E Måtensson |
Progress in the Chemistry of Fats and other Lipids | 1970 |
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Prenatal Genetic Diagnosis
A Milunsky, JW Littlefield, JN Kanfer, EH Kolodny, VE Shih, L Atkins |
New England Journal of Medicine | 1970 |
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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 |
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β-Glucosidase activities in human tissues findings in Gaucher's disease
B Hultberg, PA Öckerman |
Clinica Chimica Acta | 1970 |
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In Vivo Studies on Glycosphingolipid Metabolism in Porcine Blood
G Dawson, CC Sweeley |
The Journal of biological chemistry | 1970 |
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Lactosylceramide galactosidase: Comparison with other sphingolipid hydrolases in developing rat brain
NS Radin, L Hof, RM Bradley, RO Brady |
Brain Research | 1969 |
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The use of white cells as a source of diagnostic material for lipid storage diseases
RA Snyder, RO Brady |
Clinica Chimica Acta | 1969 |
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Genetics and the Sphingolipidoses
RO Brady |
The Medical clinics of North America | 1969 |
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Die infantile amaurotische Idiotie und verwandte Formen als Gangliosid-Speicherkrankheiten
K Sandhoff, H Jatzkewitz, G Peters |
Die Naturwissenschaften | 1969 |
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Structural Neurochemistry
A Lajtha |
1969 | |
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Chemical Architecture of the Nervous System
A Lajtha |
1969 | |
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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 |
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The lysosomal localization of sphingolipid hydrolases
NJ Weinreb, RO Brady, AL Tappel |
Biochimica et Biophysica Acta (BBA) - Enzymology | 1968 |
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Genetic Heterogeneity
B Childs, VM der Kaloustian |
New England Journal of Medicine | 1968 |
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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 |
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Cytogenetics and Genetics
PL Townes, MS Adams |
Pediatric Clinics of North America | 1968 |
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Gaucher's Disease: A Genetic Disease Detected in Skin Fibroblast Cultures
BS Danes, AG Bearn |
Science | 1968 |
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Glycosidases in the Nervous System
E Robins, HE Hirsch, SS Emmons |
The Journal of biological chemistry | 1968 |
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Splenic lipids in Gaucher's disease
NG Kennaway, LI Woolf |
Journal of lipid research | 1968 |
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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 |
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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 |
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Lysosomes in disease
R K Chandra |
The Indian Journal of Pediatrics | 1967 |
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Annotations
RK C |
The Indian Journal of Pediatrics | 1966 |
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Methods of Biochemical Analysis: Glick/Methods
D Glick |
1960 |
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