Article
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.
American journal of medical genetics. Part A - 15 Jul 2005
Seidahmed M Z, Alyamani E A, Rashed M S, Saadallah A A, Abdelbasit O B, Shaheed M M, Rasheed A, Hamid F A, Sabry M A
Abstract excerpt
We ascertained a patient with the full-blown phenotype of isolated sulfite oxidase deficiency in a consanguineous Arab family. The proband's phenotype included the presence of intractable seizures in the neonatal period, some dysmorphic features, neuroradiologic findings reminiscent of hypoxic ischemic encephalopathy and rapidly progressive brain destruction leading to severe neurodevelopmental impairment....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.