Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

Virchows Archiv

Volumn 437, Issue 1, 2000, Pages 101-105

  De Koning, T J ^a   Nikkels, P G J ^b   Dorland, L ^a   Bekhof, J ^a   De Schrijver, J E A R ^a   Van Hattum, J ^b   Van Diggelen, O P ^b   Duran, M ^a   Berger, R ^a   Poll The, B T ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b NONE

Author keywords

CDG syndrome; Congenital hepatic fibrosis; Phosphomannose isomerase deficiency

Indexed keywords

ALBUMIN; ALPHA 1 ANTITRYPSIN; ANTITHROMBIN III; BLOOD CLOTTING FACTOR; MANNOSE; MANNOSE PHOSPHATE ISOMERASE; PROTEIN C; PROTEIN S; TRANSFERASE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; DIARRHEA; DUODENUM BIOPSY; ENTEROPATHY; ENZYME DEFICIENCY; FEMALE; HEPATOMEGALY; HUMAN; HUMAN TISSUE; LIVER BIOPSY; LIVER FIBROSIS; MALE; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY; SIBLING; VOMITING;

EID: 0033917838     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004280000185     Document Type: Article

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