Atıf İçin Kopyala
Senbil N., Tosun M. S., EZGÜ F. S., Gurer Y. K. Y.
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.40, sa.2, ss.105-108, 2005 (ESCI)
-
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.