CDG IIx with unusual phenotype

Journal of Inherited Metabolic Disease

Volumn 27, Issue 1, 2004, Pages 103-104

  Cheillan, David ^a   Cognat, S ^a   Dorche, C ^a   Jaeken, J ^b   Vianey Saban, C ^a   Guffon, N ^c  

^a HÔPITAL DEBROUSSE   (France)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA 1 ANTITRYPSIN; ALPHA1 GLYCOPROTEIN; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; CREATININE; CYSTATHIONINE; HAPTOGLOBIN; TRANSFERRIN;

ACUTE KIDNEY FAILURE; ANEMIA; ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2X; CONSANGUINITY; CONVALESCENCE; CYTOLYSIS; DRY SKIN; FAILURE TO THRIVE; GASTROENTERITIS; GENETIC SCREENING; HEMOLYTIC UREMIC SYNDROME; HOSPITAL ADMISSION; HUMAN; HYPERAMMONEMIA; HYPOPROTEINEMIA; ISOELECTRIC FOCUSING; JAUNDICE; LABORATORY TEST; LIVER DYSFUNCTION; MACROCEPHALY; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PLAGIOCEPHALY; PRESCHOOL CHILD; PROTEINURIA; RESPIRATORY DISTRESS; THROMBOCYTOPENIA; WESTERN BLOTTING;

ANEMIA, HEMOLYTIC; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHRONIC DISEASE; CREATINE KINASE; FACE; GLYCOSYLATION; HUMANS; INFANT; MALE; PHENOTYPE; PROTEINURIA; PSYCHOMOTOR PERFORMANCE;

EID: 1842486039     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000016679.20481.4a     Document Type: Article

References (3)

1. Jaeken J (2003) Congenital disorders of glycosylation: It's all in it! J Inherit Matab Dis 26: 99-118.
2. Hansske B, Thiel C, Lübke T, et al (2002) Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest 109: 725-733.
3. Peters V, Penzien JM, Reiter G, et al (2002) Congential disorder of glycosylation IId (CDG-IId) - a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Neuropediatrics 33: 27-32.