A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

Biochemical and Biophysical Research Communications

Volumn 245, Issue 1, 1998, Pages 38-42

  De Koning, T J ^a   Dorland, L ^a   Van Diggelen, O P ^b   Boonman, A M C ^b   De Jong, G J ^c   Van Noort, W L ^b   De Schryver, Jear ^a   Duran, M ^a   Van Den Berg, I E T ^a   Gerwig, G J ^c   Berger, R ^a   Poll The, B T ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c NONE

Author keywords

Carbohydrate deficient glycoproteins; CDG syndrome; Congenital hepatic fibrosis; Cyclic vomiting; Phosphomannose isomerase deficiency

Indexed keywords

MANNOSE PHOSPHATE ISOMERASE; MUTASE; TRANSFERRIN;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; ISOELECTRIC FOCUSING; LEUKOCYTE; LIVER; LIVER FIBROSIS; MALE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SIBLING; TRANSFERRIN BLOOD LEVEL; VOMITING;

EID: 0032492583     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1998.8385     Document Type: Article

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