Associated Papers
D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.
Ognean ML et al.
International Journal of Molecular Sciences, 2024
Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death.
Buerki SE et al.
Seizure, 2023
Kinetic and thermodynamic effects of mutations of human sulfite oxidase.
Rajapakshe A et al.
Chemistry & Biodiversity, 2012
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.
Karakas E et al.
Dalton Transactions (cambridge, England : 2003), 2005
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.
Seidahmed MZ et al.
American Journal of Medical Genetics. Part A, 2005
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.
Johnson JL et al.
Human Mutation, 2002
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