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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Detalles Bibliográficos
Autores principales: Weber Hoss, Giovana R., Sperb‐Ludwig, Fernanda, Schwartz, Ida V. D., Blom, Henk J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284035/
https://www.ncbi.nlm.nih.gov/pubmed/32232970
http://dx.doi.org/10.1002/mgg3.1214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284035/
https://www.ncbi.nlm.nih.gov/pubmed/32232970
http://dx.doi.org/10.1002/mgg3.1214

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