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Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison

BACKGROUND: Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000–200,000 people in the United States (US). HCU is poorly detected by newborn screening, resulting in underestimates of its prevalence. This study...

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Detalles Bibliográficos
Autores principales: Sellos-Moura, Marcia, Glavin, Frank, Lapidus, David, Evans, Kristin, Lew, Carolyn R., Irwin, Debra E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059682/
https://www.ncbi.nlm.nih.gov/pubmed/32143624
http://dx.doi.org/10.1186/s12913-020-5054-5