JCI - Citations to Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

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Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

R Niehues, … , H K Harms, T Marquardt

R Niehues, … , H K Harms, T Marquardt

Published April 1, 1998
Citation Information: J Clin Invest. 1998;101(7):1414-1420. https://doi.org/10.1172/JCI2350.

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Title and authors	Publication	Year
D-mannose promotes diabetic wound healing through inhibiting advanced glycation end products formation in keratinocytes Luo J, Wu T, Zhang J, Liang Z, Shao W, Wang D, Li L, Zuo D, Zhou J	Molecular Medicine	2025
Mannose reduces fructose metabolism and reverses MASH in human liver slices and murine models in vivo Hong JG, Trotman J, Carbajal Y, Dey P, Glass M, Sclar V, Alter IL, Zhang P, Wang L, Chen L, Petitjean M, Bhattacharya D, Wang S, Friedman SL, DeRossi C, Chu J	Hepatology Communications	2025
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation Budhraja R, Radenkovic S, Jain A, Muffels IJ, Ismaili MH, Kozicz T, Pandey A, Morava E	Molecular Genetics and Metabolism	2024
Congenital Diarrhoeas and Enteropathies Köglmeier J, Lindley KJ	Nutrients	2024
Mannose: A Promising Player in Clinical and Biomedical Applications. Chen S, Wang K, Wang Q	Current drug delivery	2024
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia Luo C, Peng D, Li Y, Liu S, Wu Q, Xu X, Wen J	Molecular Genetics and Metabolism Reports	2024
Mannose metabolism inhibition sensitizes acute myeloid leukaemia cells to therapy by driving ferroptotic cell death. Woodley K, Dillingh LS, Giotopoulos G, Madrigal P, Rattigan KM, Philippe C, Dembitz V, Magee AMS, Asby R, van de Lagemaat LN, Mapperley C, James SC, Prehn JHM, Tzelepis K, Rouault-Pierre K, Vassiliou GS, Kranc KR, Helgason GV, Huntly BJP, Gallipoli P	Nature Communications	2023
Congenital disorders of glycosylation: narration of a story through its patents. Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV	Orphanet Journal of Rare Diseases	2023
New Insights on Sperm Function in Male Infertility of Unknown Origin: A Multimodal Approach. Pacheco RI, Cristo MI, Anjo SI, Silva AF, Sousa MI, Tavares RS, Sousa AP, Almeida Santos T, Moura-Ramos M, Caramelo F, Manadas B, Ramalho-Santos J, Amaral SG	Biomolecules	2023
Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL. Aoki E, Manabe N, Ohno S, Aoki T, Furukawa JI, Togayachi A, Aoki-Kinoshita K, Inokuchi JI, Kurosawa K, Kaname T, Yamaguchi Y, Nishihara S	Molecular Genetics and Metabolism Reports	2023
A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive. Rani S, Sahai I, Misra M		2023
Mannose: a potential saccharide candidate in disease management Dhanalakshmi M, Sruthi D, Jinuraj KR, Das K, Dave S, Andal NM, Das J	Medicinal Chemistry Research	2023
Mannose ameliorates experimental colitis by protecting intestinal barrier integrity. Dong L, Xie J, Wang Y, Jiang H, Chen K, Li D, Wang J, Liu Y, He J, Zhou J, Zhang L, Lu X, Zou X, Wang XY, Wang Q, Chen Z, Zuo D	Nature Communications	2022
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Fructose and Mannose in Inborn Errors of Metabolism and Cancer EL Lieu, N Kelekar, P Bhalla, J Kim	Metabolites	2021
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Measurement and PC-SAFT modeling of the water activity for aqueous solutions of D-mannose in some deep eutectic solvents E Behboudi, H Shekaari, MT Zafarani-Moattar	Journal of the Taiwan Institute of Chemical Engineers	2021
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Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects M Görlacher, E Panagiotou, N Himmelreich, A Hüllen, L Beedgen, B Dimitrov, V Geiger, M Zielonka, V Peters, S Strahl, J Vázquez-Jiménez, G Kerst, C Thiel	Molecular Genetics and Metabolism Reports	2020
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Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG B Dimitrov, N Himmelreich, AL Ederveen, C Lüchtenborg, JG Okun, M Breuer, AM Hutter, M Carl, L Guglielmi, A Hellwig, KC Thiemann, M Jost, V Peters, C Staufner, GF Hoffmann, A Hackenberg, N Paramasivam, S Wiemann, R Eils, M Schlesner, S Strahl, B Brügger, M Wuhrer, GC Korenke, C Thiel	Molecular Genetics and Metabolism	2018
CDG Therapies: From Bench to Bedside S Brasil, C Pascoal, R Francisco, D Marques-da-Silva, G Andreotti, P Videira, E Morava, J Jaeken, V dos Reis Ferreira	International journal of molecular sciences	2018
Perspectives on Glycosylation and Its Congenital Disorders BG Ng, HH Freeze	Trends in genetics : TIG	2018
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant A Deeb, AA Amoodi	Clinical Case Reports	2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) D Lenz, P McClean, A Kansu, PE Bonnen, G Ranucci, C Thiel, BK Straub, I Harting, B Alhaddad, B Dimitrov, U Kotzaeridou, D Wenning, R Iorio, RW Himes, Z Kuloğlu, EL Blakely, RW Taylor, T Meitinger, S Kölker, H Prokisch, GF Hoffmann, TB Haack, C Staufner	Genetics in Medicine	2018
Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism V Sharma, J Smolin, J Nayak, JE Ayala, DA Scott, SN Peterson, HH Freeze	Cell Reports	2018
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Protein N-Glycosylation in Cardiovascular Diseases and Related Risk Factors I Gudelj, G Lauc	Current Cardiovascular Risk Reports	2018
Guerbet glycolipids from mannose: liquid crystals properties M Patrick, NI Zahid, M Kriechbaum, R Hashim	Liquid Crystals	2018
Congenital disorders of glycosylation IJ Chang, M He, CT Lam	Annals of translational medicine	2018
Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity and Improves Host Metabolism V Sharma, J Smolin, J Nayak, JE Ayala, DA Scott, SN Peterson, HH Freeze	SSRN Electronic Journal	2018
An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect type ıb P Haznedar, FT Eminoglu	TURK PEDIATR ARSIVI	2018
Oral D-galactose supplementation in PGM1-CDG SY Wong, T Gadomski, M Scherpenzeel, T Honzik, H Hansikova, KS Holmefjord, M Mork, F Bowling, J Sykut-Cegielska, D Koch, J Hertecant, G Preston, J Jaeken, N Peeters, S Perez, DD Nguyen, K Crivelly, T Emmerzaal, KM Gibson, K Raymond, NA Bakar, F Foulquier, G Poschet, AM Ackermann, M He, DJ Lefeber, C Thiel, T Kozicz, E Morava	Genetics in Medicine	2017
MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect N Shtraizent, C DeRossi, S Nayar, R Sachidanandam, LS Katz, A Prince, AP Koh, A Vincek, Y Hadas, Y Hoshida, DK Scott, E Eliyahu, HH Freeze, KC Sadler, J Chu	eLife	2017
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature D Marques-da-Silva, VR Ferreira, M Monticelli, P Janeiro, PA Videira, P Witters, J Jaeken, D Cassiman	Journal of Inherited Metabolic Disease	2017
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy JH Park, M Hogrebe, M Fobker, R Brackmann, B Fiedler, J Reunert, S Rust, K Tsiakas, R Santer, M Grüneberg, T Marquardt	Genetics in Medicine	2017
Limitations of galactose therapy in phosphoglucomutase 1 deficiency K Nolting, JH Park, LC Tegtmeyer, A Zühlsdorf, M Grüneberg, S Rust, J Reunert, ID Chesne, V Debus, E Schulze-Bahr, RC Baxter, Y Wada, C Thiel, E Schaftingen, R Fingerhut, T Marquardt	Molecular Genetics and Metabolism Reports	2017
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Biological roles of glycans A Varki	Glycobiology	2016
Glycobiology and Human Diseases YP Lin, M Osburne, M Pereira, J Coburn, J Leong	Glycobiology and Human Diseases	2016
Perhaps a wee bit of sugar would help HH Freeze	Nature Genetics	2016
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan I Gerin, B Ury, I Breloy, C Bouchet-Seraphin, J Bolsée, M Halbout, J Graff, D Vertommen, GG Muccioli, N Seta, JM Cuisset, I Dabaj, S Quijano-Roy, A Grahn, EV Schaftingen, GT Bommer	Nature Communications	2016
Inborn Metabolic Diseases JM Saudubray, MR Baumgartner, J Walter	Inborn Metabolic Diseases	2016
Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction T Hennet, J Cabalzar	Trends in Biochemical Sciences	2015
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Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology JJ Lyons, JD Milner, SD Rosenzweig	Frontiers in Pediatrics	2015
Alteration of glycan structures by swainsonine affects steroidogenesis in bovine luteal cells M Sano, K Hashiba, M Higashi, K Okuda	Theriogenology	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
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It Is Not Always Alcohol Abuse—A Transferrin Variant Impairing the CDT Test A Zühlsdorf, M Said, C Seger, JH Park, J Reunert, S Rust, Y Wada, M Grüneberg, I DuChesne, T Marquardt	Alcohol and Alcoholism	2015
The intestinal glycome and its modulation by diet and nutrition D Kavanaugh, J O'Callaghan, M Kilcoyne, M Kane, L Joshi, RM Hickey	Nutrition Reviews	2015
Transferrin Sialylation in Smoking and Non-Smoking Pregnant Women with Intrauterine Growth Restriction M Wrześniak, M Kepinska, A Bizoń, E Milnerowicz-Nabzdyk, H Milnerowicz	Fetal & Pediatric Pathology	2015
JIMD Reports SS Althoff, M Grüneberg, J Reunert, JH Park, S Rust, C Mühlhausen, Y Wada, R Santer, T Marquardt	JIMD reports	2015
JIMD Reports, Volume 26 E Morava, M Baumgartner, M Patterson, S Rahman, J Zschocke, V Peters	JIMD reports	2015
Textbook of Pediatric Gastroenterology, Hepatology and Nutrition S Guandalini, A Dhawan, D Branski		2015
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice V Sharma, J Nayak, C Derossi, A Charbono, M Ichikawa, BG Ng, E Grajales-Esquivel, A Srivastava, L Wang, P He, DA Scott, J Russell, E Contreras, CM Guess, S Krajewski, KD Rio-Tsonis, HH Freeze	The FASEB Journal	2014
Mannose Metabolism: More than meets the eye V Sharma, M Ichikawa, HH Freeze	Biochemical and Biophysical Research Communications	2014
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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency LC Tegtmeyer, S Rust, M Scherpenzeel, BG Ng, ME Losfeld, S Timal, K Raymond, P He, M Ichikawa, J Veltman, K Huijben, YS Shin, V Sharma, M Adamowicz, M Lammens, J Reunert, A Witten, E Schrapers, G Matthijs, J Jaeken, D Rymen, T Stojkovic, P Laforêt, F Petit, O Aumaître, E Czarnowska, M Piraud, T Podskarbi, CA Stanley, R Matalon, P Burda, S Seyyedi, V Debus, P Socha, J Sykut-Cegielska, F Spronsen, L Meirleir, P Vajro, T DeClue, C Ficicioglu, Y Wada, RA Wevers, D Vanderschaeghe, N Callewaert, R Fingerhut, E Schaftingen, HH Freeze, E Morava, DJ Lefeber, T Marquardt	New England Journal of Medicine	2014
Clinical utility gene card for: Phosphomannose isomerase deficiency J Jaeken, D Lefeber, G Matthijs	European Journal of Human Genetics	2014
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ALG1-CDG: A new case with early fatal outcome AK Rohlfing, S Rust, J Reunert, M Tirre, ID Chesne, S Wemhoff, F Meinhardt, H Hartmann, AM Das, T Marquardt	Gene	2014
AIM and NBO analyses on hydrogen bonds formation in sugar-based surfactants (α/β- d -mannose and n- octyl-α/β- d -mannopyranoside): a density functional theory study ZM Kotena, R Behjatmanesh–Ardakani, R Hashim	Liquid Crystals	2014
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption A Helander, J Jaeken, G Matthijs, G Eggertsen	Clinica Chimica Acta	2014
The Metabolic Origins of Mannose in Glycoproteins M Ichikawa, DA Scott, ME Losfeld, HH Freeze	The Journal of biological chemistry	2014
The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation JH Park, A Zühlsdorf, Y Wada, C Roll, S Rust, ID Chesne, M Grüneberg, J Reunert, T Marquardt	Clinica Chimica Acta	2014
Neuropädiatrie J Gärtner, C Körner, A Kohlschütter, N Muschol, SA Schneider, U Spiekerkötter, R Steinfeld, C Thiel, E Wilichowski	Neuropediatrics	2014
Angeborene Stoffwechselkrankheiten bei Erwachsenen M Merkel, W März	Angeborene Stoffwechselkrankheiten bei Erwachsenen	2014
Handbook of Glycosyltransferases and Related Genes N Taniguchi, K Honke, M Fukuda, H Narimatsu, Y Yamaguchi, T Angata		2014
Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction K Koehler, M Malik, S Mahmood, S Gießelmann, C Beetz, JC Hennings, AK Huebner, A Grahn, J Reunert, G Nürnberg, H Thiele, J Altmüller, P Nürnberg, R Mumtaz, D Babovic-Vuksanovic, L Basel-Vanagaite, G Borck, J Brämswig, R Mühlenberg, P Sarda, A Sikiric, K Anyane-Yeboa, A Zeharia, A Ahmad, C Coubes, Y Wada, T Marquardt, D Vanderschaeghe, E Van Schaftingen, I Kurth, A Huebner, CA Hübner	The American Journal of Human Genetics	2013
Understanding human glycosylation disorders: biochemistry leads the charge HH Freeze	The Journal of biological chemistry	2013
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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases N Blau, M Duran, KM Gibson, CD Vici		2013
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG G Matthijs, D Rymen, MB Millón, E Souche, V Race	Glycoconjugate Journal	2012
Congenital protein hypoglycosylation diseases SE Sparks	The Application of Clinical Genetics	2012
The congenital disorders of glycosylation: A multifaceted group of syndromes EA Eklund, HH Freeze	NeuroRX	2012
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy TK Niethamer, T Yardeni, P Leoyklang, C Ciccone, A Astiz-Martinez, K Jacobs, HM Dorward, PM Zerfas, WA Gahl, M Huizing	Molecular Genetics and Metabolism	2012
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Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): Extending the clinical and molecular spectrum of a rare disease AE Würde, J Reunert, S Rust, C Hertzberg, S Haverkämper, G Nürnberg, P Nürnberg, L Lehle, R Rossi, T Marquardt	Molecular Genetics and Metabolism	2012
Therapies and therapeutic approaches in Congenital Disorders of Glycosylation C Thiel, C Körner	Glycoconjugate Journal	2012
Diseases of glycosylation beyond classical congenital disorders of glycosylation T Hennet	Biochimica et Biophysica Acta (BBA) - General Subjects	2012
Swaiman's Pediatric Neurology GM Enns, TM Cowan, O Klein, S Packman	Swaiman's Pediatric Neurology	2012
MacSween's Pathology of the Liver RJ Thompson, BC Portmann, EA Roberts	MacSween's Pathology of the Liver	2012
Screening for congenital disorders of glycosylation in the first weeks of life C Thiel, D Meßner-Schmitt, GF Hoffmann, C Körner	Journal of Inherited Metabolic Disease	2012
Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children H Nagasaka, T Yorifuji, RH Bandsma, T Takatani, H Asano, H Mochizuki, M Takuwa, H Tsukahara, A Inui, T Tsunoda, H Komatsu, E Hiejima, T Fujisawa, K Hirano, T Miida, A Ohtake, T Taguchi, I Miwa	Journal of Inherited Metabolic Disease	2012
Regulation of dolichol-linked glycosylation M Welti	Glycoconjugate Journal	2012
Insights into complexity of congenital disorders of glycosylation SS Goreta, S Dabelic, J Dumic	BIOCHEM MEDICA	2012
A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency A Cline, N Gao, H Flanagan-Steet, V Sharma, S Rosa, R Sonon, P Azadi, KC Sadler, HH Freeze, MA Lehrman, R Steet, R Gilmore	Molecular biology of the cell	2012
A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation J Chu, A Mir, N Gao, S Rosa, C Monson, V Sharma, R Steet, HH Freeze, MA Lehrman, KC Sadler	Disease models & mechanisms	2012
Life with too much polyprenol–polyprenol reductase deficiency JE Gründahl, Z Guan, S Rust, J Reunert, B Müller, ID Chesne, K Zerres, S Rudnik-Schöneborn, N Ortiz-Brüchle, MG Häusler, J Siedlecka, E Swiezewska, CR Raetz, T Marquardt	Molecular Genetics and Metabolism	2011
Mouse models for congenital disorders of glycosylation C Thiel, C Körner	Journal of Inherited Metabolic Disease	2011
Handbook of Clinical Neurology T Ashizawa, PS Sarkar	Muscular Dystrophies	2011
The Enzymes EJ Chenette, CJ Der	Protein Prenylation PART A	2011
The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases BE Miyamoto, ED Kakkis	Orphanet Journal of Rare Diseases	2011
Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG) AS Schroeder, M Kappler, M Bonfert, I Borggraefe, C Schoen, K Reiter	Journal of Inherited Metabolic Disease	2011
Potent, Selective, and Orally Available Benzoisothiazolone Phosphomannose Isomerase Inhibitors as Probes for Congenital Disorder of Glycosylation Ia R Dahl, Y Bravo, V Sharma, M Ichikawa, RP Dhanya, M Hedrick, B Brown, J Rascon, M Vicchiarelli, A Mangravita-Novo, L Yang, D Stonich, Y Su, LH Smith, E Sergienko, HH Freeze, ND Cosford	Journal of Medicinal Chemistry	2011
Pediatric Gastrointestinal and Liver Disease FA Sylvester	Pediatric Gastrointestinal and Liver Disease	2011
A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylation C Jones, J Denecke, R Sträter, T Stölting, Y Schunicht, D Zeuschner, J Klumperman, DJ Lefeber, O Spelten, A Zarbock, S Kelm, K Strenge, SM Haslam, K Lühn, D Stahl, L Gentile, T Schreiter, P Hilgard, AG Beck-Sickinger, T Marquardt, MK Wild	The American Journal of Pathology	2011
Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts V Sharma, M Ichikawa, P He, DA Scott, Y Bravo, R Dahl, BG Ng, ND Cosford, HH Freeze	The Journal of biological chemistry	2011
Phosphomannose Isomerase Inhibitors Improve N -Glycosylation in Selected Phosphomannomutase-deficient Fibroblasts V Sharma, M Ichikawa, P He, Y Bravo, R Dahl, BG Ng, ND Cosford, HH Freeze	The Journal of biological chemistry	2011
Improvement of Dolichol-linked Oligosaccharide Biosynthesis by the Squalene Synthase Inhibitor Zaragozic Acid* MA Haeuptle, M Welti, H Troxler, AJ Hülsmeier, T Imbach, T Hennet	The Journal of biological chemistry	2010
Enteropathies of Infancy and Childhood P Russo	Surgical Pathology Clinics	2010
Metabolic manipulation of glycosylation disorders in humans and animal models HH Freeze, V Sharma	Seminars in Cell & Developmental Biology	2010
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency) I Miwa, T Taguchi, H Asano, T Murata, T Yorifuji, H Nagasaka, T Takatani	Clinica Chimica Acta	2010
PMI (manA) as a nonantibiotic selectable marker gene in plant biotechnology P Stoykova, P Stoeva-Popova	Plant Cell, Tissue and Organ Culture (PCTOC)	2010
Ontogeny of d-Mannose Transport and Metabolism in Rat Small Intestine M Cano, AA Ilundain	Journal of Membrane Biology	2010
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip N Rind, V Schmeiser, C Thiel, B Absmanner, J Lubbehusen, J Hocks, N Apeshiotis, E Wilichowski, L Lehle, C Korner	Human Molecular Genetics	2010
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation J Lubbehusen, C Thiel, N Rind, D Ungar, BH Prinsen, TJ de Koning, PM van Hasselt, C Korner	Human Molecular Genetics	2010
Protein glycosylation—an evolutionary crossroad between genes and environment G Lauc, V Zoldoš	Molecular BioSystems	2010
Improvement of Dolichol-linked Oligosaccharide Biosynthesis by the Squalene Synthase Inhibitor Zaragozic Acid MA Haeuptle, M Welti, H Troxler, AJ Hülsmeier, T Imbach, T Hennet	The Journal of biological chemistry	2010
Fibrocystic Diseases of the Liver KF Murray, AM Larson		2010
Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG) AS Schroeder, M Kappler, M Bonfert, I Borggraefe, C Schoen, K Reiter	Journal of Inherited Metabolic Disease	2010
Ontogeny of d-Mannose Transport and Metabolism in Rat Small Intestine M Cano, AA Ilundain	The Journal of Membrane Biology	2010
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib P Lonlay, N Seta	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	2009
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides MA Haeuptle, T Hennet	Human Mutation	2009
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts A Higashidani, L Bode, A Nishikawa, HH Freeze	Molecular Genetics and Metabolism	2009
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping AW El-Hattab, TA Smolarek, ME Walker, EK Schorry, LD Immken, G Patel, MA Abbott, BC Lanpher, Z Ou, SH Kang, A Patel, F Scaglia, JR Lupski, SW Cheung, P Stankiewicz	Human Genetics	2009
Trastornos cong??nitos de la glucosilaci??n de las glucoprote??nas s??ricas P Lonlay, N Seta	EMC - Pediatr??a	2009
Evaluation of serum percent trisialotransferrin as potential predictive biomarker of hepatocellular dedifferentiation in chronic liver disease OA Gressner, S Jafari, M Erkens, C Gao, S Stanzel, AM Gressner	Clinica Chimica Acta	2009
IGF system in children with congenital disorders of glycosylation BS Miller, MJ Khosravi, MC Patterson, CA Conover	Clinical Endocrinology	2009
GI Tract Enteropathies of Infancy and Childhood P Russo	Surgical Pathology of the GI Tract Liver Biliary Tract and Pancreas	2009
Glycosylation diseases: Quo vadis? H Schachter, HH Freeze	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	2009
Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients HH Freeze	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	2009
Encyclopedia of Neuroscience SM Caples, VK Somers	Encyclopedia of Neuroscience	2009
Biomarkers and diagnosis of congenital disorders of glycosylation J Denecke	Expert Opinion on Medical Diagnostics	2009
Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib YS Liem, L Bode, HH Freeze, FW Leebeek, AA Zandbergen, JH Wilson	Nature Clinical Practice Gastroenterology & Hepatology	2008
Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx PL Calvo, S Pagliardini, M Baldi, A Pucci, L Sturiale, D Garozzo, T Vinciguerra, C Barbera, J Jaeken	Journal of Inherited Metabolic Disease	2008
Dolichol-phosphate mannose synthase: Structure, function and regulation Y Maeda, T Kinoshita	Biochimica et Biophysica Acta (BBA) - General Subjects	2008
Development of liver disease despite mannose treatment in two patients with CDG-Ib K Mention, F Lacaille, V Valayannopoulos, S Romano, A Kuster, M Cretz, H Zaidan, L Galmiche, F Jaubert, Y Keyzer, N Seta, P Lonlay	Molecular Genetics and Metabolism	2008
Impact of glycans on T-cell tolerance to glycosylated self-antigens AW Purcell, IR van Driel, PA Gleeson	Immunology and Cell Biology	2008
A "Glyconutrient Sham" RL Schnaar, HH Freeze	Glycobiology	2008
Evaluation of protein safety in the context of agricultural biotechnology B Delaney, J Astwood, H Cunny, R Conn, C Herouetguicheney, S Macintosh, L Meyer, L Privalle, Y Gao, J Mattsson	Food and Chemical Toxicology	2008
Anomalies congénitales de glycosylation des glycoprotéines sériques P Lonlay, N Seta	EMC - Pédiatrie - Maladies infectieuses	2008
Anomalies congénitales de glycosylation P Lonlay, V Valayannopoulos, T Dupré, S Vuillaumier-Barrot, N Seta	Archives de Pédiatrie	2008
Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa EM Hernández, AI Pajares, BP González, MJ Crespo, FL Pérez, JM López-Manzanares, MU Pérez, CP Silvestre	Anales de Pediatría	2008
RECURRENT THROMBO-EMBOLISM IN A CHILD WITH A CONGENITAL DISORDER OF GLYCOSYLATION (CDG) TYPE IB AND TREATMENT WITH MANNOSE RY Tamminga, DJ Lefeber, WA Kamps, FJ van Spronsen	Pediatric Hematology-Oncology	2008
Mannose Inhibits Hyaluronan Synthesis by Down-regulation of the Cellular Pool of UDP- N -acetylhexosamines TA Jokela, M Jauhiainen, S Auriola, M Kauhanen, R Tiihonen, MI Tammi, RH Tammi	The Journal of biological chemistry	2008
Screening Using Serum Percentage of Carbohydrate-Deficient Transferrin for Congenital Disorders of Glycosylation in Children with Suspected Metabolic Disease C Pérez-Cerdá, D Quelhas, AI Vega, J Ecay, L Vilarinho, M Ugarte	Clinical chemistry	2008
Glycoscience BO Fraser-Reid, K Tatsuta, J Thiem		2008
Laboratory Guide to the Methods in Biochemical Genetics N Blau, M Duran, KM Gibson		2008
Heparan Sulfate and Syndecan-1 are Essential in Maintaining Intestinal Epithelial Barrier Function Lars Bode, Camilla Salvestrini, Pyong Woo Park, Jin-Ping Li, Jeffrey D. Esko, Simon Murch, Hudson H. Freeze	Journal of Clinical Investigation	2007
Laboratory Diagnosis of Congenital Disorders of Glycosylation Type I by Analysis of Transferrin Glycoforms D Babovic-Vuksanovic, JF OBrien	Molecular diagnosis & therapy	2007
Translation attenuation by PERK balances ER glycoprotein synthesis with lipid-linked oligosaccharide flux J Shang, N Gao, RJ Kaufman, D Ron, HP Harding, MA Lehrman	The Journal of Cell Biology	2007
Differential Toxic Mechanisms of 2-Deoxy-D-Glucoseversus2-Fluorodeoxy-D -Glucose in Hypoxic and Normoxic Tumor Cells M Kurtoglu, JC Maher, TJ Lampidis	Antioxidants & Redox Signaling	2007
Screening and diagnosis of congenital disorders of glycosylation E Marklová, Z Albahri	Clinica Chimica Acta	2007
A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia FA McKenzie, M Fietz, J Fletcher, RL Smith, IM Wright, J Jaeken	American Journal of Medical Genetics Part A	2007
Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy R Hardré, A Khaled, A Willemetz, T Dupré, S Moore, C Gravier-Pelletier, YL Merrer	Bioorganic & Medicinal Chemistry Letters	2007
Comprehensive Glycoscience S Kelm, R Ravindran	Comprehensive Glycoscience	2007
Control of T Cell-mediated Autoimmunity by Metabolite Flux to N -Glycan Biosynthesis A Grigorian, SU Lee, W Tian, IJ Chen, G Gao, R Mendelsohn, JW Dennis, M Demetriou	The Journal of biological chemistry	2007
Pädiatrie MJ Lentze, FJ Schulte, J Schaub, J Spranger	Pädiatrie	2007
Therapie der Krankheiten im Kindes- und Jugendalter D Reinhardt		2007
Stimulation of N-Linked Glycosylation and Lipid-Linked Oligosaccharide Synthesis by Stress Responses in Metazoan Cells MA Lehrman	Critical Reviews in Biochemistry and Molecular Biology	2006
Oral ingestion of mannose alters the expression level of deaminoneuraminic acid (KDN) in mouse organs S Go, C Sato, K Furuhata, K Kitajima	Glycoconjugate Journal	2006
Applied glycoproteomics—approaches to study genetic-environmental collisions causing protein-losing enteropathy L Bode, HH Freeze	Biochimica et Biophysica Acta (BBA) - General Subjects	2006
Proteinglycosylierung, konserviert von der Bäckerhefe bis zum Menschen: Ein Modellorganismus hilft bei der Aufklärung menschlicher Erbkrankheiten L Lehle, S Strahl, W Tanner	Angewandte Chemie	2006
Protein Glycosylation, Conserved from Yeast to Man: A Model Organism Helps Elucidate Congenital Human Diseases L Lehle, S Strahl, W Tanner	Angewandte Chemie International Edition	2006
Genetic defects in the human glycome HH Freeze	Nature Reviews Genetics	2006
Intraktable Diarrhoe aufgrund kongenitaler Enterozytendefekte AD Phillips	Annales Nestlé (Deutsche Aufl.)	2006
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation EA Eklund, L Sun, SP Yang, RM Pasion, EC Thorland, HH Freeze	Biochemical and Biophysical Research Communications	2006
Diagnosis of congenital disorders of glycosylation type-I using protein chip technology K Mills, P Mills, M Jackson, V Worthington, C Beesley, A Mann, P Clayton, S Grunewald, G Keir, L Young, J Langridge, N Mian, B Winchester	PROTEOMICS	2006
Free Sugar and Sugar Alcohol Concentrations in Human Breast Milk C Cavalli, C Teng, FC Battaglia, G Bevilacqua	Journal of Pediatric Gastroenterology and Nutrition	2006
Intractable Diarrhoea due to Congenital Enterocyte Defects AD Phillips	Annales Nestlé	2006
Protein-Losing Enteropathy After Fontan Operation: Investigations Into Possible Pathophysiologic Mechanisms AM Ostrow, H Freeze, J Rychik	The Annals of Thoracic Surgery	2006
Diarrhées intraitables dues à des anomalies congénitales des entérocytes AD Phillips	Annales Nestlé (Ed. française)	2006
Glycosylation in Cellular Mechanisms of Health and Disease K Ohtsubo, JD Marth	Cell	2006
Congenital Disorders of N-Glycosylation Including Diseases Associated With O- as Well as N-Glycosylation Defects JG Leroy	Pediatric Research	2006
Treatment and management of patients with inherited metabolic diseases JS Lee	Korean Journal of Pediatrics	2006
A New Intronic Mutation in the DPM1 Gene Is Associated With a Milder Form of CDG Ie in Two French Siblings J Dancourt, S Vuillaumier-Barrot, HO de Baulny, I Sfaello, A Barnier, C Bizec, T Dupre, G Durand, N Seta, SE Moore	Pediatric Research	2006
The congenital disorders of glycosylation: A multifaceted group of syndromes EA Eklund, HH Freeze	Neurotherapeutics	2006
Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases N Blau, J Leonard, GF Hoffmann, JT Clarke		2006
Diarrea intratable causada por anomalías congénitas de los enterocitos AD Philips		2006
Analysis of glycosylation in CDG-Ia fibroblasts by fluorophore-assisted carbohydrate electrophoresis: implications for extracellular glucose and intracellular mannose 6-phosphate N Gao, J Shang, MA Lehrman	The Journal of biological chemistry	2005
Altered glycan structures: the molecular basis of congenital disorders of glycosylation HH Freeze, M Aebi	Current Opinion in Structural Biology	2005
Glycoproteomics ofN-glycosylation by in-gel deglycosylation and matrix-assisted laser desorption/ionisation-time of flight mass spectrometry mapping: Application to congenital disorders of glycosylation D Šagi, P Kienz, J Denecke, T Marquardt, J Peter-Katalinić	PROTEOMICS	2005
Effects of Saccharides on Brain Function and Cognitive Performance T Best, E Kemps, J Bryan	Nutrition Reviews	2005
Kinetic measurements of phosphoglucose isomerase and phosphomannose isomerase by direct analysis of phosphorylated aldose–ketose isomers using tandem mass spectrometry H Gao, Y Chen, JA Leary	International Journal of Mass Spectrometry	2005
Essentials of Glycosylation EA Eklund, HH Freeze	Seminars in Pediatric Neurology	2005
Metabolic Mimics: The Disorders of N-Linked Glycosylation MC Patterson	Seminars in Pediatric Neurology	2005
Ablation of Mouse Phosphomannose Isomerase ( Mpi ) Causes Mannose 6-Phosphate Accumulation, Toxicity, and Embryonic Lethality C DeRossi, L Bode, EA Eklund, F Zhang, JA Davis, V Westphal, L Wang, AD Borowsky, HH Freeze	The Journal of biological chemistry	2005
Heparan sulfate depletion amplifies TNF-α-induced protein leakage in an in vitro model of protein-losing enteropathy L Bode, EA Eklund, S Murch, HH Freeze	AJP Gastrointestinal and Liver Physiology	2005
Molekularmedizinische Grundlagen von fetalen und neonatalen Erkrankungen D Ganten, K Ruckpaul		2005
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts EA Eklund, N Merbouh, M Ichikawa, A Nishikawa, JM Clima, JA Dorman, T Norberg, HH Freeze	Glycobiology	2005
Wild Artichoke Prevents the Age-Associated Loss of Vasomotor Function G Rossoni, S Grande, C Galli, F Visioli	Journal of Agricultural and Food Chemistry	2005
Mechanism and Kinetics of Metalloenzyme Phosphomannose Isomerase: Measurement of Dissociation Constants and Effect of Zinc Binding Using ESI-FTICR Mass Spectrometry H Gao, Y Yu, JA Leary	Analytical Chemistry	2005
A six-month-old infant with liver steatosis MO Stormon, E Cutz, K Furuya, M Bedford, L Yerkes, DR Tolan, A Feigenbaum	The Journal of Pediatrics	2004
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I C Kranz, J Denecke, L Lehle, K Sohlbach, S Jeske, F Meinhardt, R Rossi, S Gudowius, T Marquardt	The American Journal of Human Genetics	2004
Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I C Kranz, J Denecke, L Lehle, K Sohlbach, S Jeske, F Meinhardt, R Rossi, S Gudowius, T Marquardt	The American Journal of Human Genetics	2004
Defectos congénitos de la glucosilación: últimos avances y experiencia española MA Vilaseca, R Artuch, P Briones	Medicina Clínica	2004
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik M Schwarz, C Thiel, J Lübbehusen, B Dorland, T Koning, K Figura, L Lehle, C Körner	The American Journal of Human Genetics	2004
Gastrointestinal and Other Clinical Manifestations in 17 Children With Congenital Disorders of Glycosylation Type Ia, Ib, and Ic: G Damen, H Klerk, J Huijmans, J Hollander, M Sinaasappel	Journal of Pediatric Gastroenterology and Nutrition	2004
Excess Mannose Limits the Growth of Phosphomannose Isomerase PMI40 Deletion Strain of Saccharomyces cerevisiae JP Pitkänen, A Törmä, S Alff, L Huopaniemi, P Mattila, R Renkonen	The Journal of biological chemistry	2004
Our Experience with Diagnostics of Congenital Disorders of Glycosylation Z Albahri, E Marklová, H Vaníček, L Minxová, P Dědek, S Skálová, M Talábová, J Vávrová, E Rencová	Acta Medica (Hradec Kralove, Czech Republic)	2004
Pathology of Pediatric Gastrointestinal and Liver Disease P Russo, ED Ruchelli, DA Piccoli		2004
Vasomodulating Potential of Mediterranean Wild Plant Extracts S Grande, P Bogani, A de Saizieu, G Schueler, C Galli, F Visioli	Journal of Agricultural and Food Chemistry	2004
Congenital disorders of glycosylation (CDG): Update and new developments J Jaeken	Journal of Inherited Metabolic Disease	2004
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies T Marquardt, J Denecke	European Journal of Pediatrics	2003
Congenital disorders of glycosylation (CDG): It's all in it! J Jaeken	Journal of Inherited Metabolic Disease	2003
New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system Bradley S Miller, Hudson H Freeze	Reviews in Endocrine and Metabolic Disorders	2003
A GENETICAPPROACHTOMAMMALIANGLYCANFUNCTION JB Lowe, JD Marth	Annual Review of Biochemistry	2003
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease A Li, S Davila, L Furu, Q Qian, X Tian, PS Kamath, BF King, VE Torres, S Somlo	The American Journal of Human Genetics	2003
Physiological changes in circulating mannose levels in normal, glucose-intolerant, and diabetic subjects H Sone, H Shimano, H Ebinuma, A Takahashi, Y Yano, KT Iida, H Suzuki, H Toyoshima, Y Kawakami, Y Okuda, Y Noguchi, K Ushizawa, K Saito, N Yamada	Metabolism	2003
A G ENETIC A PPROACHTO M AMMALIAN G LYCAN F UNCTION JB Lowe, JD Marth	Annual Review of Biochemistry	2003
Protocolo de estudio en hepatopatías de etiología metabólica MM Casanova	Anales de Pediatría	2003
Cell surface expression of C1qRP/CD93 is stabilized by O-glycosylation M Park, AJ Tenner	Journal of Cellular Physiology	2003
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases N Blau, M Duran, ME Blaskovics, KM Gibson		2003
Cardiomyopathy in congenital disorders of glycosylation J Gehrmann, K Sohlbach, M Linnebank, HJ Böhles, S Buderus, HG Kehl, J Vogt, E Harms, T Marquardt	Cardiology in the Young	2003
Lexikon der Syndrome und Fehlbildungen R Witkowski, O Prokop, E Ullrich, G Thiel		2003
Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases W Rschinger, B Olgemller, R Fingerhut, B Liebl, AA Roscher	European Journal of Pediatrics	2003
Deficiency of UDP-galactose: N-acetylglucosamine beta-1,4-galactosyltransferase I as cause of the congenital disorder of glycosylation type IId (CDG-IId) Bengt Hanßke, Christian Thiel, Torben Lübke, Martin Hasilik, Stefan Höning, Verena Peters, Peter H. Heidemann, Georg F. Hoffmann, Eric G. Berger, Kurt von Figura, Christian Körner	Journal of Clinical Investigation	2002
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis Y Wang, J Tan, M Sutton-Smith, D Ditto, M Panico, RM Campbell, NM Varki, JM Long, J Jaeken, SR Levinson, A Wynshaw-Boris, HR Morris, D Le, A Dell, H Schachter, JD Marth	Glycobiology	2002
Mechanisms of Liver Injury Relevant to Pediatric Hepatology MS Tanner	Critical Reviews in Clinical Laboratory Sciences	2002
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig C Thiel, M Schwarz, M Hasilik, U Grieben, F Hanefeld, L Lehle, K Figura, C Körner	Biochemical Journal	2002
Encyclopedia of Molecular Biology B Mannervik	Encyclopedia of Molecular Biology	2002
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency HK Harms, KP Zimmer, K Kurnik, RM Bertele-Harms, S Weidinger, K Reiter	Acta Paediatrica	2002
Human disorders in N-glycosylation and animal models HH Freeze	Biochimica et Biophysica Acta (BBA) - General Subjects	2002
Toward a Molecular Understanding of Complex Childhood Enteropathies SH Murch	Journal of Pediatric Gastroenterology and Nutrition	2002
Congenital Intestinal Lymphatic Hypoplasia Presenting as Non-Immune Hydrops In Utero, and Subsequent Neonatal Protein-Losing Enteropathy MO Stormon, JD Mitchell, JS Smoleniec, V Tobias, AS Day	Journal of Pediatric Gastroenterology and Nutrition	2002
Congenital Disorders of Glycosylation: A Review STEPHANIE GR??NEWALD, GERT MATTHIJS, AND, JAAK JAEKEN	Pediatric Research	2002
Molecular cloning, gene organization, and expression of mouse Mpi encoding phosphomannose isomerase JA Davis, XH Wu, L Wang, C DeRossi, V Westphal, R Wu, G Alton, G Srikrishna, HH Freeze	Glycobiology	2002
Traffic Jams II: An Update of Diseases of Intracellular Transport : Traffic Jams II M Aridor, LA Hannan	Traffic	2002
Traffic Jams II: An Update of Diseases of Intracellular Transport: Traffic Jams II M Aridor, LA Hannan	Traffic	2002
Congenital Disorders of Glycosylation: A Review: S Gr??Newald, GM And, J Jaeken	Pediatric Research	2002
Clinical approach to inherited metabolic disorders in neonates: an overview JM Saudubray, MC Nassogne, P Lonlay, G Touati	Seminars in Neonatology	2002
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins GM Enns, RD Steiner, N Buist, C Cowan, KA Leppig, MF McCracken, V Westphal, HH Freeze, JF O'Brien, J Jaeken, G Matthijs, S Behera, L Hudgins	The Journal of Pediatrics	2002
Inborn errors presenting with liver dysfunction PT Clayton	Seminars in Neonatology	2002
Congenital Disorders of Glycosylation Type Ig Is Defined by a Deficiency in Dolichyl-P-mannose:Man 7 GlcNAc 2 -PP-dolichyl Mannosyltransferase I Chantret, T Dupré, C Delenda, S Bucher, J Dancourt, A Barnier, A Charollais, D Heron, B Bader-Meunier, O Danos, N Seta, G Durand, R Oriol, P Codogno, SE Moore	The Journal of biological chemistry	2002
A Deficiency in Dolichyl-P-glucose:Glc 1 Man 9 GlcNAc 2 -PP-dolichyl α3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation I Chantret, J Dancourt, T Dupré, C Delenda, S Bucher, S Vuillaumier-Barrot, HO de Baulny, C Peletan, O Danos, N Seta, G Durand, R Oriol, P Codogno, SE Moore	The Journal of biological chemistry	2002
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG) E Schollen, K Martens, E Geuzens, G Matthijs	European Journal of Human Genetics	2002
Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: A new genetic syndrome? J Levy, W Chung, M Garzon, MP Gallagher, SE Oberfield, E Lieber, K Anyane-Yeboa	American Journal of Medical Genetics	2002
Mutations in the human MPDU1 gene are responsible for a novel form of the congenital disorder of glycosylation (CDG), designated type If Barbara Schenk, Timo Imbach, Christian G. Frank, Claudia E. Grubenmann, Gerald V. Raymond, H. Hurvitz, A. Raas-Rotschild, Anthony S. Luder, Jaak Jaeken, Eric G. Berger, Gert Matthijs, Thierry Hennet, Markus Aebi	Journal of Clinical Investigation	2001
A mutation in the human Lec35/MPDU1 gene causes Congenital Disorder of Glycosylation Type If (CDG-If) Christian Kranz, Jonas Denecke, Mark A. Lehrman, Sutapa Ray, Petra Kienz, Gunilla Kreissel, Dijana Sagi, Jasna Peter-Katalinic, Hudson H. Freeze, Thomas Schmid, Sabine Jackowski-Dohrmann, Erik Harms, Thorsten Marquardt	Journal of Clinical Investigation	2001
Maintenance and loss of self-tolerance in B cells A Iglesias	Springer Seminars in Immunopathology	2001
Balancing N-linked glycosylation to avoid disease HH Freeze, V Westphal	Biochimie	2001
Congenital Disorders of Glycosylation: Glycosylation Defects in Man and Biological Models for Their Study T Marquardt, H Freeze	Biological Chemistry	2001
CONGENITALDISORDERS OFGLYCOSYLATION J Jaeken, G Matthijs	Annual Review of Genomics and Human Genetics	2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases P Lonlay, N Seta, S Barrot, B Chabrol, V Drouin, BM Gabriel, H Journel, M Kretz, J Laurent, ML Merrer, A Leroy, D Pedespan, P Sarda, N Villeneuve, J Schmitz, E Schaftingen, G Matthijs, J Jaeken, C Korner, A Munnich, JM Saudubray, V Cormier-Daire	Journal of medical genetics	2001
Genetic remodeling of protein glycosylation in vivo induces autoimmune disease D Chui, G Sellakumar, R Green, M Sutton-Smith, T McQuistan, K Marek, H Morris, A Dell, J Marth	Proceedings of the National Academy of Sciences	2001
Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse JA Davis, HH Freeze	Biochimica et Biophysica Acta (BBA) - General Subjects	2001
Genetic and Metabolic Analysis of the First Adult with Congenital Disorder of Glycosylation Type Ib: Long-Term Outcome and Effects of Mannose Supplementation V Westphal, S Kjaergaard, JA Davis, SM Peterson, F Skovby, HH Freeze	Molecular Genetics and Metabolism	2001
Congenitale defecten van de glycosylering (cdg) anno 2000 J Jaeken, H Carchon	Tijdschrift voor kindergeneeskunde	2001
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia V Westphal, S Peterson, M Patterson, A Tournay, A Blumenthal, EP Treacy, HH Freeze	Genetics in Medicine	2001
Diversity of congenital disorders of glycosylation J Leonard, S Grünewald, P Clayton	The Lancet	2001
Update and perspectives on congenital disorders of glycosylation HH Freeze	Glycobiology	2001
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling V Drouin-Garraud, M Belgrand, S Grnewald, N Seta, JN Dacher, A Hnocq, G Matthijs, V Cormier-Daire, T Frbourg, P Saugier-Veber	American Journal of Medical Genetics	2001
Carbohydrate-deficient glycoprotein syndrome 1b: A new answer to an old diagnostic dilemma DF Kelly, A Boneh, S Pitsch, H Gold, M Fietz, P Nelson, MR Oliver	Journal of Paediatrics and Child Health	2001
Unusual Enteropathies SH Murch	Gastrointestinal Endoscopy Clinics of North America	2001
Determination of d-Mannose in Serum by Capillary Electrophoresis HA Carchon, J Jaeken	Clinical chemistry	2001
Hyperinsulinaemic hypoglycaemia-Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency) H Böhles, AC Sewell, B Gebhardt, A Reinecke-Lüthge, G Klöppel, T Marquardt	Journal of Inherited Metabolic Disease	2001
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) S Kim, V Westphal, G Srikrishna, DP Mehta, S Peterson, J Filiano, PS Karnes, MC Patterson, HH Freeze	Journal of Clinical Investigation	2000
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie T Imbach, B Schenk, E Schollen, P Burda, A Stutz, S Grunewald, NM Bailie, MD King, J Jaeken, G Matthijs, EG Berger, M Aebi, T Hennet	Journal of Clinical Investigation	2000
Carbohydrate-deficient glycoprotein syndromes N Gordon	Postgraduate medical journal	2000
Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation V Westphal, S Murch, S Kim, G Srikrishna, B Winchester, R Day, HH Freeze	The American Journal of Pathology	2000
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis S Gr�newald, T Imbach, K Huijben, ME Rubio-Gozalbo, A Verrips, JB de Klerk, H Stroink, JF de Andel, JL van Hove, U Wendel, G Matthijs, T Hennet, J Jaeken, RA Wevers	Annals of Neurology	2000
Analysis of Multiple Mutations in the hALG6 Gene in a Patient with Congenital Disorder of Glycosylation Ic V Westphal, C Schottstädt, T Marquardt, HH Freeze	Molecular Genetics and Metabolism	2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib) E Schollen, L Dorland, TJ Koning, OP Diggelen, JG Huijmans, T Marquardt, D Babovic-Vuksanovic, M Patterson, F Imtiaz, B Winchester, M Adamowicz, E Pronicka, H Freeze, G Matthijs	Human Mutation	2000
Personal Experience with the Application of Carbohydrate-Deficient Transferrin (CDT) Assays to the Detection of Congenital Disorders of Glycosylation C Colomé, I Ferrer, R Artuch, MA Vilaseca, M Pineda, P Briones	Clinical Chemistry and Laboratory Medicine	2000
Modification of Glycosylation as A Therapeutic Strategy B Winchester, GW Fleet	Journal of Carbohydrate Chemistry	2000
Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1 T Takahashi, R Honda, Y Nishikawa	Glycobiology	2000
Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG) JS Rush, K Panneerselvam, CJ Waechter, HH Freeze	Glycobiology	2000
Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances CH Ommen, M Peters, PG Barth, P Vreken, RJ Wanders, J Jaeken	The Journal of Pediatrics	2000
Budd-Chiari syndrome associated with coagulation abormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix M Huemer, WD Huber, W Schima, D Moeslinger, U Holzbach, R Wevers, H Wank, S Stoeckler-Ipsiroglu	The Journal of Pediatrics	2000
Propuesta de protocolo de estudio de las enfermedades cerebrovasculares de la infancia EC Jalón, MP Marfà, RA Iriberri, MA Buscà, JC Plana	Anales de Pediatría	2000
Syndrome d'hypoglycosylation des glycoprotéines sériques P Lonlay, V Cormier-Daire, S Vuillaumier-Barrot, M Cuer, G Durand, A Munnich, JM Saudubray, N Seta	Archives de Pédiatrie	2000
The Role of Phosphomannose Isomerase in Leishmania mexicana Glycoconjugate Synthesis and Virulence A Garami, T Ilg	The Journal of biological chemistry	2000
Congenital disorders of glycosylation: Have you encountered them? V Westphal, G Srikrishna, HH Freeze	Genetics in Medicine	2000
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1 F Imtiaz, V Worthington, M Champion, C Beesley, J Charlwood, P Clayton, G Keir, N Mian, B Winchester	Journal of Inherited Metabolic Disease	2000
Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism C Knopf, R Rod, J Jaeken, M Berant, EV Schaftingen, JP Fryns, R Brill-Zamir, R Gershoni-Baruch, S Lischinsky, H Mandel	Journal of Inherited Metabolic Disease	2000
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic T Imbach, P Burda, P Kuhnert, RA Wevers, M Aebi, EG Berger, T Hennet	Proceedings of the National Academy of Sciences	1999
Chromosome 15 F Gilbert	Genetic Testing	1999
Is There Treatment for “Genetic” Disease? CR Scriver, EP Treacy	Molecular Genetics and Metabolism	1999
Human Glycosylation Disorders and Sugar Supplement Therapy HH Freeze	Biochemical and Biophysical Research Communications	1999
Phosphomannomutase Deficiency: The Molecular Basis of the Classical Jaeken Syndrome (CDGS Type Ia) G Matthijs, E Schollen, L Heykants, S Grünewald	Molecular Genetics and Metabolism	1999
Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism T Marquardt, T Brune, K Lühn, KP Zimmer, C Körner, L Fabritz, N der Werft, J Vormoor, HH Freeze, F Louwen, B Biermann, E Harms, K Figura, D Vestweber, HG Koch	The Journal of Pediatrics	1999
Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy TJ Koning, L Dorland, GP Henegouwen	Journal of Hepatology	1999
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome D Babovic-Vuksanovic, MC Patterson, WF Schwenk, JF O’Brien, J Vockley, HH Freeze, DP Mehta, VV Michels	The Journal of Pediatrics	1999
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose P Lonlay, M Cuer, S Vuillaumier-Barrot, G Beaune, P Castelnau, M Kretz, G Durand, JM Saudubray, N Seta	The Journal of Pediatrics	1999
beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain UK Laemmli	Biochimica et Biophysica Acta	1999
Carbohydrate-deficient glycoprotein syndrome et glycosylation des N-glycosylprotéines N Seta	Archives de Pédiatrie	1999
Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity H H Freeze, M Aebi	Biochimica et Biophysica Acta	1999
Carbohydrate-deficient glycoprotein syndrome type II H Schachter, J Jaeken	Biochimica et Biophysica Acta	1999
Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients T Dupre, E Ogier-Denis, S E Moore, V Cormier-Daire, M Dehoux, G Durand, N Seta, P Codogno	Biochimica et Biophysica Acta	1999
Expression of Three Caenorhabditis elegans N -Acetylglucosaminyltransferase I Genes during Development S Chen, S Zhou, M Sarkar, AM Spence, H Schachter	The Journal of biological chemistry	1999
A New Type of Carbohydrate-deficient Glycoprotein Syndrome Due to a Decreased Import of GDP-fucose into the Golgi T Lübke, T Marquardt, K Figura, C Körner	The Journal of biological chemistry	1999
Screening for "Prelysosomal Disorders": Carbohydrate-Deficient Glycoprotein Syndromes MC Patterson	Journal of child neurology	1999
Congenital hepatic fibrosis?Is it really a matter of ?a spoonful of sugar?? SJ Schwarzenberg	Hepatology	1999
Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib DM Neele, CM Kneepkens, NM Verhoeven, C Jakobs	Journal of Inherited Metabolic Disease	1999
Correction of Leukocyte Adhesion Deficiency Type II With Oral Fucose T Marquardt, K Lühn, G Srikrishna, HH Freeze, E Harms, D Vestweber	Blood	1999
Carbohydrate-Deficient Glycoprotein Syndromes: Inborn Errors of Protein Glycosylation G Keir, BG Winchester, P Clayton	Annals of Clinical Biochemistry	1999
Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism T Marquardt, T Brune, K Lühn, KP Zimmer, C Körner, L Fabritz, N van der Werft, J Vormoor, HH Freeze, F Louwen, B Biermann, E Harms, K von Figura, D Vestweber, HG Koch	The Journal of Pediatrics	1999
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide P Burda, L Borsig, JR Andel, R Wevers, J Jaeken, H Carchon, EG Berger, M Aebi	Journal of Clinical Investigation	1998
Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase C Körner, R Knauer, U Holzbach, F Hanefeld, L Lehle, K Figura	Proceedings of the National Academy of Sciences	1998
Disorders in protein glycosylation and potential therapy: Tip of an iceberg? HH Freeze	The Journal of Pediatrics	1998
Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities MJ Acarregui, TN George, WJ Rhead	The Journal of Pediatrics	1998
Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation J Jaeken, G Matthijs, JM Saudubray, C Dionisi-Vici, E Bertini, P Lonlay, H Henri, H Carchon, E Schollen, EV Schaftingen	The American Journal of Human Genetics	1998
Inborn errors of metabolism EH Kolodny, WJ Cable	Annals of Neurology	1982
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Neuropathology S Milcou, I Pototp, C Ciocîrdia, D Niculesco-Zinca	Neuropathology	1959
Neurologie R Jung, R Brun, O Gagel, F Hiller, H Jantz, F Laubenthal, F Lüthy, T Riechert, B Schulz, PE Becker, G Bodechtel, H Scheller, A Schrader, E Bay, H Demme, HW Gruhle, J Hallervorden, R Hassler, H Kalm, J Klaesi, R Mallison, H Pette, H Ruf, W Scheid, H Selbach	Neurologie	1953

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