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Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar
Background: Classical homocystinuria due to cystathionine β-synthase (CBS) deficiency (OMIM 236200) is a recessively inherited condition caused by mutations in the CBS gene. The founder mutation p.R336C accounts for almost all CBS deficiency in Qatar, affecting approximately 1 in 1,800 births, makin...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4470953/ https://ncbi.nlm.nih.gov/pubmed/25712383 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_394 |
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