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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. Morris AA, et al. J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. J Inherit Metab Dis. 2017. PMID: 27778219 Free PMC article. Review.
Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. ...
Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. …
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
Chen ZX, Jia WN, Sun Y, Chen TH, Zhao ZN, Lan LN, Liu Y, Song LH, Jiang YX. Chen ZX, et al. Hum Mutat. 2022 Dec;43(12):2141-2152. doi: 10.1002/humu.24483. Epub 2022 Oct 17. Hum Mutat. 2022. PMID: 36208099
ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma. ...
ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which inclu …
Diagnosis and treatment of microspherophakia.
Yu X, Chen W, Xu W. Yu X, et al. J Cataract Refract Surg. 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. J Cataract Refract Surg. 2020. PMID: 32694307
Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.
Li JT, Chen ZX, Chen XJ, Jiang YX. Li JT, et al. Orphanet J Rare Dis. 2022 Oct 27;17(1):392. doi: 10.1186/s13023-022-02544-x. Orphanet J Rare Dis. 2022. PMID: 36303223 Free PMC article.
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype-phenotype correlations have been established yet. ...
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease asso …