Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

Journal of Clinical Investigation

Volumn 109, Issue 6, 2002, Pages 725-733

  Hanke, Bengt ^a   Thiel, Christian ^a   Lübke, Torben ^a   Hasilik, Martin ^a   Höning, Stefan ^a   Peters, Verena ^b   Heidemann, Peter H ^c   Hoffmann, Georg F ^b   Berger, Eric G ^d   Von Figura, Kurt ^a   Körner, Christian ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c KLINIKUM AUGSBURG   (Germany)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; GALACTOSYLTRANSFERASE; N ACETYLLACTOSAMINE SYNTHASE; OLIGOSACCHARIDE; SIALIC ACID; TRANSFERRIN;

ANIMAL CELL; ARTICLE; BLOOD CLOTTING DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL STRAIN COS7; CONGENITAL DISORDER; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME GLYCOSYLATION; GENE EXPRESSION; GENE MUTATION; GOLGI COMPLEX; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYDROCEPHALUS; LEUKOCYTE; MALE; MYOPATHY; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PEPTIDE SYNTHESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; TRANSFERRIN BLOOD LEVEL; TRANSLATION REGULATION;

BETA-N-ACETYLGLUCOSAMINYLGLYCOPEPTIDE BETA-1,4-GALACTOSYLTRANSFERASE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CELLS, CULTURED; CHILD, PRESCHOOL; CHROMATOGRAPHY, AFFINITY; FIBROBLASTS; GALACTOSE; GLYCOPROTEINS; GOLGI APPARATUS; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; LEUKOCYTES; MALE; PROTEIN TRANSPORT; SKIN; TRANSFERRIN; URIDINE DIPHOSPHATE GALACTOSE;

EID: 0036200383     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200214010     Document Type: Article

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