Congenital disorders involving defective N-glycosylation of proteins

Cellular and Molecular Life Sciences

Volumn 58, Issue 8, 2001, Pages 1085-1104

  Schachter, H ^a  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

Congenital disease; Congenital disorders of glycosylation; Congenital dyserythropoietic anemia; Fucose metabolism; Glycosylation; Leukocyte adhesion deficiency; Mannose metabolism; N glycans

Indexed keywords

ALPHA MANNOSIDASE; ASPARAGINE; DOLICHOL PHOSPHATE; GLYCAN; GUANOSINE DIPHOSPHATE FUCOSE; N ACETYLGLUCOSAMINE; OLIGOSACCHARIDE; POLYPEPTIDE; PYROPHOSPHATE;

AUTOSOMAL RECESSIVE DISORDER; CONGENITAL DISORDER OF GLYCOSYLATION; ERYTHROBLAST; GENETIC DISORDER; HEREDITARY HEMOLYTIC ANEMIA; LEUKOCYTE ADHESION DEFICIENCY; MAMMAL; MULTINUCLEAR CELL; NONHUMAN; PROTEIN ASSEMBLY; PROTEIN BINDING; PROTEIN GLYCOSYLATION; PSYCHOMOTOR RETARDATION; REVIEW;

EID: 0034871051     PISSN: 1420682X     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00000923     Document Type: Review

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228. Reconstitution, identification, and purification of the rat liver Golgi membrane GDP-fucose transporter
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230. Correction of leukocyte adhesion deficiency type II with oral fucose
231. Human glycosylation disorders and sugar supplement therapy
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234. The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis
235. Capillary electrophoresis-based separation of transferrin sialoforms in patients with carbohydrate-deficient glycoprotein syndrome
236. 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
237. Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: Pathognomonic finding of two-dimensional electrophoresis?