Copy For Citation
Senbil N., Tosun M. S., EZGÜ F. S., Gurer Y. K. Y.
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.40, no.2, pp.105-108, 2005 (ESCI)
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Publication Type:
Article / Article
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Volume:
40
Issue:
2
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Publication Date:
2005
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Doi Number:
10.1002/ajmg.a.30796
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Journal Name:
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
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Journal Indexes:
Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
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Page Numbers:
pp.105-108
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Keywords:
blood uric acid, intractable seizure, sulfite oxidase
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Gazi University Affiliated:
Yes
Abstract
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.