1.
Indian Pediatr
;
2008 Sep; 45(9): 777-9
Artículo
en Inglés
| IMSEAR
| ID: sea-12427
RESUMEN
A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.