Publications by authors named "Eiman A Al-Yamani"
Background: We review clinical, neuroimaging, and genetic information on six individuals with isolated sulfite oxidase deficiency (ISOD).
Methods: All patients were examined, and clinical records, biochemistry, neuroimaging, and sulfite oxidase gene (SUOX) sequencing were reviewed.
Results: Data was available on six individuals from four nuclear families affected by ISOD.