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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Saudi Medical Journal
2021
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| Materias: | |
| 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 |