Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka

BACKGROUND: Homocystinuria is an inherited, inborn error of homocysteine metabolism, which leads to the abnormal accumulation of homocysteine and its metabolites in blood and urine, resulting in various complications. Variants in the cystathionine β-synthase (CBS) and methylenetetrahydrofolate reduc...

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Detalles Bibliográficos
Autores principales: Samarasinghe, Nadeesha, Mahaliyanage, Dinithi, De Silva, Sumadee, Jasinge, Eresha, Punyasiri, Nimal, Dilanthi, H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747987/
https://www.ncbi.nlm.nih.gov/pubmed/36512268
http://dx.doi.org/10.1186/s43141-022-00449-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9747987/
https://www.ncbi.nlm.nih.gov/pubmed/36512268
http://dx.doi.org/10.1186/s43141-022-00449-7

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