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Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. ...Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizure …
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe n …
Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients.
Sharawat IK, Saini L, Singanamala B, Saini AG, Sahu JK, Attri SV, Sankhyan N. Sharawat IK, et al. Brain Dev. 2020 Feb;42(2):157-164. doi: 10.1016/j.braindev.2019.11.003. Epub 2019 Dec 2. Brain Dev. 2020. PMID: 31806255 Review.
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessively inherited inborn error of metabolism, caused by mutation in SUOX gene. ...The common presenting signs and symptoms were movement disorders, seizures, ectopia lent …
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessively inherited inborn error of metabo …