Congenital disorders of glycosylation: Have you encountered them?

Genetics in Medicine

Volumn 2, Issue 6, 2000, Pages 329-337

  Westphal, V ^a   Srikrishna, G ^a   Freeze, H H ^a  

^a BURNHAM INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; FUCOSE; GLUCOSIDASE; GLUCOSYLTRANSFERASE; ISOMERASE; MANNOSE; MANNOSE PHOSPHATE ISOMERASE; MANNOSYLTRANSFERASE; MONOSACCHARIDE; OLIGOSACCHARIDE; PHOSPHOMANNOMUTASE; SYNTHETASE; TRANSFERASE;

BLOOD CLOTTING DISORDER; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL DISORDER OF GLYCOSYLATION; DIARRHEA; DIET; EDEMA; FAILURE TO THRIVE; FEEDING DISORDER; GENE MUTATION; HUMAN; LABORATORY DIAGNOSIS; LIVER FIBROSIS; MUSCLE HYPOTONIA; PROTEIN GLYCOSYLATION; PROTEIN LOSING GASTROENTEROPATHY; PSYCHOMOTOR RETARDATION;

EID: 0034519192     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200011000-00005     Document Type: Conference Paper

References (91)

1. Oligosaccharides in vertebrate development
2. Suppression of tumor growth and metastasis in Mgat5-deficient mice
3. Setting the standards: Quality control in the secretory pathway
4. Glycosylation variants of murine interleukin-4: Evidence for different functional properties
5. Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors
6. Biological roles of oligosaccharides: All of the theories are correct
7. Roles for glycosylation of cell surface receptors involved in cellular immune recognition
8. Why mammalian cell surface proteins are glycoproteins
9. Traffic signals on endothelium for lymphocyte recirculation and leukocyte emigration
10. Evolutionary considerations in relating oligosaccharide diversity to biological function
11. Biological importance of glycosylation
12. Synthesis and sorting of proteoglycans
13. Protein glycosylation. Structural and functional aspects
14. A review of the biological significance of carbohydrates on glycoproteins and methods for their analysis
15. Radioactive tracer techniques in the sequencing of glycoprotein oligosaccharides
16. Glycosyltransferase mutants: Key to new insights in glycobiology
17. Glycosylation inhibitors in biology and medicine
18. The specific site of tunicamycin inhibition in the formation of dolichol-bound N-acetylglucosamine derivatives
19. The ST3Gal-I sialyltransferase controls CD8+ T lymphocyte homeostasis by modulating O-glycan biosynthesis
20. Immune regulation by the ST6Gal sialyl-transferase
21. Complex asparagine-linked oligosaccharides in Mgat1-null embryos
22. The O-GlcNAc transferase gene resides on the X chromosome and is essential for embryonic stem cell viability and mouse ontogeny
23. Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis
24. Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate- deficient glycoprotein syndrome type I
25. Carbohydrate-deficient glycoprotein syndrome become congenital disorders of glycosylation: An updated nomenclature for CDG
26. Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with congenital disorders of glycosylation (CDG)
27. Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome
28. PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13
29. Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes
30. Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation
31. Poll-The BT. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
32. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
33. Deficiency of dolicholphosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
34. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
35. Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc: Man9GlcNAc2-PP-dolichyl glucosyltransferase
36. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic
37. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic
38. Carbohydrate deficient glycoprotein syndrome type IV: Deficiency of dolichyl-P-Man: Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
39. Carbohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localised N-acetyl-glucosaminyltransferase II
40. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome typeII, an autosomal recessive disease with defective brain development
41. A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the Golgi
42. Leukocyte adhesion deficiency type II
43. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)
44. Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families
45. Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
46. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
47. Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome
48. Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome
49. Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I
50. Carbohydrate-deficient glycoprotein syndrome: Electrophoretic study of multiple serum glycoproteins
51. Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: Apparent deficiencies in clusterin and serum amyloid P
52. Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency
53. Carbohydrate-deficient glycoprotein syndrome: Normal glycosylation in the fetus
54. Carbohydrate-deficient transferrin in galactosaemia
55. Defective galactosylation of serum transferrin in galactosemia
56. Transferrin isoform distribution: Gender and alcohol consumption
57. Carbohydrate deficient glycoprotein syndrome-like transferrin isoelectric focusing pattern in untreated fructosaemia
58. Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: Case report and review of the literature
59. Prenatal diagnosis in CDG1 families: Beware of heterogeneity
60. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling
61. Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally
62. Carbohydrate-deficient glycoprotein syndrome
63. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement
64. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
65. Carbohydrate-deficient glycoprotein syndrome type 1a: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances
66. Intestinal, pancreatic and hepatic involvement in carbohydrate-deficient glycoprotein syndrome type I
67. Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I
68. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence
69. Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
70. Carbohydrate-deficient glycoprotein syndrome: Clinical expression in adults with a new metabolic disease
71. Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation
72. Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic (CDG-Ic)
73. Congenital disorder of glycosylation-Ic: Case report and genetic defect
74. Carbohydrate-deficient blood glycoprotein syndrome
75. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
76. Low-tech mannose therapy for protein glycosylation deficiencies
77. Solution properties of the galactomannans extracted from the seeds of Caesalpinia pulcherrima and Cassia javanica: Comparison with locust bean gum
78. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts
79. Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1
80. Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A
81. Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I
82. Mannose therapy in carbohydrate-deficient glycoprotein syndrome type 1: First results from a German multicenter study
83. Correction of leukocyte adhesion deficiency type II with oral fucose
84. Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism
85. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
86. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
87. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
88. Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome
89. Recognition signal for C-mannosylation of Trp-7 in RNase 2 consists of sequence Trp-x-x-Trp
90. Protein C-mannosylation is enzyme-catalysed and uses dolichyl-phosphate-mannose as a precursor