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CblC/D defect combined with haemodynamically highly relevant VSD.
- Source :
-
Journal of inherited metabolic disease [J Inherit Metab Dis] 2001 Aug; Vol. 24 (4), pp. 511-2. - Publication Year :
- 2001
-
Abstract
- An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.
- Subjects :
- Female
Folic Acid administration & dosage
Heart Septal Defects, Ventricular diagnosis
Homocysteine blood
Homocystinuria diagnosis
Homocystinuria therapy
Humans
Hydroxocobalamin administration & dosage
Infant, Newborn
Lactic Acid blood
Metabolism, Inborn Errors complications
Metabolism, Inborn Errors diagnosis
Metabolism, Inborn Errors therapy
Methionine blood
Heart Septal Defects, Ventricular complications
Heart Septal Defects, Ventricular surgery
Homocystinuria complications
Methylmalonic Acid urine
Subjects
Details
- Language :
- English
- ISSN :
- 0141-8955
- Volume :
- 24
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of inherited metabolic disease
- Publication Type :
- Academic Journal
- Accession number :
- 11596656
- Full Text :
- https://doi.org/10.1023/a:1010541932476