The first Saudi baby with classic homocystinuria diagnosed by universal newborn screening

Classic homocystinuria (CH) is an inborn error of metabolism caused by cystathionine beta-synthase enzyme deficiency. Affected patients present with intellectual disability and other comorbidities. If diagnosed early in infancy and started treatment, inevitable complications can be prevented. Newbor...

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Detalles Bibliográficos
Autores principales: AlAnzi, Talal, Al Harbi, Fahad J., AlFaifii, Joharah, Mohamed, Sarar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Saudi Medical Journal 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989277/
https://www.ncbi.nlm.nih.gov/pubmed/33563743
http://dx.doi.org/10.15537/smj.2021.2.25643

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989277/
https://www.ncbi.nlm.nih.gov/pubmed/33563743
http://dx.doi.org/10.15537/smj.2021.2.25643

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