TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.40, no.2, pp.105-108, 2005 (ESCI)
Article / Article
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
blood uric acid, intractable seizure, sulfite oxidase
Gazi University Affiliated:
Isolated sulfite oxidase deficiency is a very rare autosomal recessive disorder associated with metabolism of sulfur containing amino acids. A 4-month-old girl with intractable seizures and feeding difficulty diagnosed as isolated sulfite oxidase deficiency is presented.