Unusual presentation of congenital disorder of glycosylation type 1a: Congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema

European Journal of Pediatrics

Volumn 164, Issue 4, 2005, Pages 223-226

  Noelle, Vera ^a   Knuepfer, Matthias ^a   Pulzer, Ferdinand ^c   Schuster, Volker ^a   Siekmeyer, Werner ^a   Matthijs, Gert ^b   Vogtmann, Christoph ^a  

^a UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c NONE

Author keywords

Congenital disorder of glycosylation; Ferritin; Hydrops; Thrombocytopenia

Indexed keywords

PHOSPHOMANNOMUTASE;

ARTICLE; BONE MARROW EXAMINATION; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CYTOLOGY; ENZYME ACTIVITY; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; FETUS HYDROPS; GENE MUTATION; HUMAN; HYDROPS; HYPERFERRITINEMIA; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; MACROPHAGE ACTIVATION; NEWBORN; NIPPLE MALFORMATION; PERICARDIAL EFFUSION; PERIPHERAL EDEMA; PHENOTYPE; PLEURA EFFUSION; PRIORITY JOURNAL; SKIN FIBROBLAST; SKIN MANIFESTATION; THROMBOCYTOPENIA;

CARDIOMYOPATHY, HYPERTROPHIC; EDEMA; FATAL OUTCOME; FEMALE; GLYCOSYLATION; HUMANS; INFANT, NEWBORN; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); THROMBOCYTOPENIA;

EID: 17444429987     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1611-x     Document Type: Article

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