The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation

Traditionally thought of as a pediatric diagnostic and therapeutic dilemma, the diagnostic rate and spectrum of inborn errors of metabolism (IEM) in the adult population is largely unknown. A retrospective chart review of patients seen by the Michigan Medicine Adult Medical Genetics Clinic for clini...

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Detalles Bibliográficos
Autores principales: Lee, Kristen N., Uhlmann, Wendy, Hipp, Lauren, Quinonez, Shane C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549142/
https://www.ncbi.nlm.nih.gov/pubmed/33072517
http://dx.doi.org/10.1016/j.ymgmr.2020.100653

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549142/
https://www.ncbi.nlm.nih.gov/pubmed/33072517
http://dx.doi.org/10.1016/j.ymgmr.2020.100653

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