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2025 0

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Page 1
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. ...
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe n …
Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics.
Hong SY, Lin CH. Hong SY, et al. Epilepsy Behav. 2023 Jun;143:109246. doi: 10.1016/j.yebeh.2023.109246. Epub 2023 May 13. Epilepsy Behav. 2023. PMID: 37187015 Review.
Sulfite oxidase deficiency (SOD) and related disorders, especially molybdenum cofactor deficiency (MoCD), are a group of rare and severe neurometabolic disorders caused by gene mutations that affect the sulfur-containing amino acid catabolic pathway. ...
Sulfite oxidase deficiency (SOD) and related disorders, especially molybdenum cofactor deficiency (MoCD), are a group o
Molybdenum cofactor deficiency.
Atwal PS, Scaglia F. Atwal PS, et al. Mol Genet Metab. 2016 Jan;117(1):1-4. doi: 10.1016/j.ymgme.2015.11.010. Epub 2015 Nov 25. Mol Genet Metab. 2016. PMID: 26653176 Review.
Neonatal epilepsies: Clinical management.
Cornet MC, Sands TT, Cilio MR. Cornet MC, et al. Semin Fetal Neonatal Med. 2018 Jun;23(3):204-212. doi: 10.1016/j.siny.2018.01.004. Epub 2018 Jan 31. Semin Fetal Neonatal Med. 2018. PMID: 29426806 Review.
This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structur …
This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-de …
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.
Johnson JL. Johnson JL. Prenat Diagn. 2003 Jan;23(1):6-8. doi: 10.1002/pd.505. Prenat Diagn. 2003. PMID: 12533804 Review.
Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency are autosomal recessive inborn errors of metabolism with severe neurological symptoms resulting from a lack of sulfite oxidase activity. ...These include MOCS1, MOCS2 or GEPH, in cases of …
Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency are autosomal recessive inborn errors of metabol …
Genetics of ectopia lentis.
Sadiq MA, Vanderveen D. Sadiq MA, et al. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):313-20. doi: 10.3109/08820538.2013.825276. Semin Ophthalmol. 2013. PMID: 24138040 Review.
Gene mutations have been identified for lens subluxation associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, Ectopia Lentis et pupillae, Ehlers Danlos syndrome, homocystinuria, and sulfite oxidase deficiency. Herein we describe …
Gene mutations have been identified for lens subluxation associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, …
Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.
Tian M, Qu Y, Huang L, Su X, Li S, Ying J, Zhao F, Mu D. Tian M, et al. BMC Pediatr. 2019 Dec 23;19(1):510. doi: 10.1186/s12887-019-1889-5. BMC Pediatr. 2019. PMID: 31870341 Free PMC article. Review.
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX). ...
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sul …
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE. Tan WH, et al. Pediatrics. 2005 Sep;116(3):757-66. doi: 10.1542/peds.2004-1897. Pediatrics. 2005. PMID: 16140720 Review.
We report a case of a newborn infant boy with isolated sulfite oxidase deficiency who presented with generalized seizures on his fourth day of life. ...Cerebral atrophy and cystic encephalomalacia were observed with neuroradiologic imaging and were noted in a …
We report a case of a newborn infant boy with isolated sulfite oxidase deficiency who presented with generalized seizur …
20 results