Isolated sulfite oxidase deficiency
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.40, sa.2, ss.105-108, 2005 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 40 Sayı: 2
- Basım Tarihi: 2005
- Doi Numarası: 10.1002/ajmg.a.30796
- Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.105-108
- Anahtar Kelimeler: blood uric acid, intractable seizure, sulfite oxidase
- Gazi Üniversitesi Adresli: Evet
Özet
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.