Metabolic Mimics: The Disorders of N-Linked Glycosylation

Aebi, 2001, Congenital disorders of glycosylation, Trends Cell Biol, 11, 136, 10.1016/S0962-8924(01)01925-0

Wu, 2004, Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder, Nat Med, 10, 518, 10.1038/nm1041

Spaapen, 2005, Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder, J Inherit Metab Dis, 28, 707, 10.1007/s10545-005-0015-z

Hagberg, 1993, Carbohydrate-deficient glycoprotein syndromes, Pediatr Neurol, 9, 255, 10.1016/0887-8994(93)90060-P

Mader, 2002, Congenital disorder of glycosylation type Ia, Childs Nerv Syst, 18, 77, 10.1007/s003810100493

Miossec-Chauvet, 2003, Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia, Neuropediatrics, 34, 1, 10.1055/s-2003-38614

Schollen, 2000, Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib), Hum Mutat, 16, 247, 10.1002/1098-1004(200009)16:3<247::AID-HUMU7>3.0.CO;2-A

Assmann, 2001, A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations, Neuropediatrics, 32, 313, 10.1055/s-2001-20407

Sun, 2005, Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient, Am J Med Genet A, 137, 22, 10.1002/ajmg.a.30831

Korner, 1999, Carbohydrate deficient glycoprotein syndrome type IV, EMBO J, 18, 6816, 10.1093/emboj/18.23.6816

Sun, 2005, Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia, J Clin Endocrinol Metab, 90, 4371, 10.1210/jc.2005-0250

Kim, 2000, Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie), J Clin Invest, 105, 191, 10.1172/JCI7302

Schenk, 2001, MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If, J Clin Invest, 108, 1687, 10.1172/JCI200113419

Chantret, 2002, Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose, J Biol Chem, 277, 25815, 10.1074/jbc.M203285200

Eklund, 2005, Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig, Mol Genet Metab, 84, 25, 10.1016/j.ymgme.2004.09.014

Chantret, 2003, A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation, J Biol Chem, 278, 9962, 10.1074/jbc.M211950200

Schollen, 2004, Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency), J Med Genet, 41, 550, 10.1136/jmg.2003.016923

Thiel, 2003, A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis, J Biol Chem, 278, 22498, 10.1074/jbc.M302850200

Wu, 2003, Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij, Hum Mutat, 22, 144, 10.1002/humu.10239

Grubenmann, 2004, Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik, Hum Mol Genet, 13, 535, 10.1093/hmg/ddh050

Weinstein, 2005, CDG-IL, Am J Med Genet A, 136, 194, 10.1002/ajmg.a.30851

Cormier-Daire, 2000, Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism, J Med Genet, 37, 875, 10.1136/jmg.37.11.875

De Praeter, 2000, A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency, Am J Hum Genet, 66, 1744, 10.1086/302948

Lubke, 2001, Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency, Nat Genet, 28, 73, 10.1038/ng0501-73

Peters, 2002, Congenital disorder of glycosylation IId (CDG-IId)—A new entity, Neuropediatrics, 33, 27, 10.1055/s-2002-23597

Willig, 2001, Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes—A new syndrome?, Blood, 97, 826, 10.1182/blood.V97.3.826

Jaeken, 2001, Defects of N-glycan synthesis, 1601

Patterson, 1999, Screening for “prelysosomal disorders”, J Child Neurol, 14, S16, 10.1177/0883073899014001041

Lacey, 2001, Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry, Clin Chem, 47, 513, 10.1093/clinchem/47.3.513

Jaeken, 2001, Congenital disorders of glycosylation, Curr Opin Neurol, 14, 811, 10.1097/00019052-200112000-00021

Westphal, 2002, A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency, Hum Mol Genet, 11, 599, 10.1093/hmg/11.5.599

Rush, 2000, Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with congenital disorders of glycosylation (CDG), Glycobiology, 10, 829, 10.1093/glycob/10.8.829

Niehues, 1998, Carbohydrate-deficient glycoprotein syndrome type Ib.Phosphomannose isomerase deficiency and mannose therapy, J Clin Invest, 101, 1414, 10.1172/JCI2350

Eklund, 2005, Hydrophobic Man-1-P derivatives correct abnormal glycosylation in type I congenital disorder of glycosylation fibroblasts, Glycobiology, 15, 1084, 10.1093/glycob/cwj006