Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation [1]

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1535-1539

  Jaeken, J ^a   Matthijs, G ^a   Saudubray, J M ^a   Dionisi Vici, C ^a   Bertini, E ^a   De Lonlay, P ^a   Henri, H ^a   Carchon, H ^a   Schollen, E ^a   Van Schaftingen, E ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHROMBIN III; MANNOSE; MANNOSE PHOSPHATE ISOMERASE;

ANTITHROMBIN III DEFICIENCY; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DIAGNOSTIC APPROACH ROUTE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME GLYCOSYLATION; FIBROBLAST; HUMAN; INFANT; ISOELECTRIC FOCUSING; LETTER; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 17444448342     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301873     Document Type: Letter

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