Sulfite oxidase deficiency in a newborn.
نویسندگان
چکیده
Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis. This condition usually presents in the neonatal period and is mainly characterized by neurological abnormalities, including refractory seizures, abnormal muscle tone, abnormal movements, and marked developmental delay. The differentiation from hypoxic-ischemic encephalopathy is difficult based on clinical findings alone. We present a neonatal case
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ورودعنوان ژورنال:
- JBR-BTR : organe de la Societe royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie
دوره 97 2 شماره
صفحات -
تاریخ انتشار 2014