Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

Abstract 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, 0.34–3.5...

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Bibliographic Details
Main Authors: Giovana R. Weber Hoss, Fernanda Sperb‐Ludwig, Ida V. D. Schwartz, Henk J. Blom
Format: Article
Language:English
Published: Wiley 2020-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
classical homocystinuria
frequent pathogenic variants
genomic databases
homocysteine
incidence
Online Access:https://doi.org/10.1002/mgg3.1214

Internet

https://doi.org/10.1002/mgg3.1214

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