Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion

INTRODUCTION: Inborn errors of metabolism (IEM) are individually rare, but their cumulative frequency is high. Most importantly, IEM are in the differential diagnosis for common clinical emergencies and childhood illnesses. Biochemical genetics (BCG) testing is used to diagnose IEM or follow-up with...

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Detalles Bibliográficos
Autores principales: De Biase, Irene, Diaz-Ochu, Margarita, Rindler, Mary, Hobson-Rohrer, Wendy L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Association of American Medical Colleges 2017
Materias:
Original Publication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338164/
https://www.ncbi.nlm.nih.gov/pubmed/30800788
http://dx.doi.org/10.15766/mep_2374-8265.10586

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338164/
https://www.ncbi.nlm.nih.gov/pubmed/30800788
http://dx.doi.org/10.15766/mep_2374-8265.10586

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