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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| 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 |