Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Inherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify individuals at risk for morbidity and mortality from undiagnosed IMDs and can lead to protocols that improve clinical detection, counseling, and m...

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Detalles Bibliográficos
Autores principales: Gold, Jessica I., Madhavan, Sarina, Park, Joseph, Zouk, Hana, Perez, Emma, Strong, Alanna, Drivas, Theodore G., Karaa, Amel, Yudkoff, Marc, Rader, Daniel, Green, Robert C., Gold, Nina B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10428110/
https://www.ncbi.nlm.nih.gov/pubmed/37593415
http://dx.doi.org/10.1016/j.xhgg.2023.100226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10428110/
https://www.ncbi.nlm.nih.gov/pubmed/37593415
http://dx.doi.org/10.1016/j.xhgg.2023.100226

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