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Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases
BACKGROUND: Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.39–1.73:100,000] according to clinical records and 1.09:100,000 [95% CI, 0.34–3.55:100,00...
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| Опубликовано в: : | Mol Genet Genomic Med |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7284035/ https://ncbi.nlm.nih.gov/pubmed/32232970 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1214 |
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