Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

Acta Paediatrica, International Journal of Paediatrics

Volumn 91, Issue 10, 2002, Pages 1065-1072

  Harms, H K ^a   Zimmer, K P ^a   Kurnik, K ^a   Bertele Harms, R M ^a   Weidinger, S ^a   Reiter, K ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Gastrointestinal bleeding; Hypoglycaemia; Mannose therapy; Phosphomannose isomerase deficiency (CDG Ib); Protein losing enteropathy

Indexed keywords

MANNOSE; MANNOSE PHOSPHATE ISOMERASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC VALUE; DISEASE COURSE; ENDOPLASMIC RETICULUM; FOLLOW UP; GASTROINTESTINAL HEMORRHAGE; HUMAN; HYPOGLYCEMIA; INTESTINE EPITHELIUM CELL; ISOELECTRIC FOCUSING; MALE; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN LOSING GASTROENTEROPATHY; PROTEIN METABOLISM; TREATMENT OUTCOME;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD; ENDOPLASMIC RETICULUM; GLYCOSYLATION; HUMANS; MALE; MANNOSE; MANNOSE-6-PHOSPHATE ISOMERASE;

EID: 0036402747     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/080352502760311566     Document Type: Article

References (24)

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