Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic Era

Inborn errors of metabolism (IEM) represent a group of about 500 rare genetic diseases with an overall estimated incidence of 1/2500. The diversity of metabolic pathways involved explains the difficulties in establishing their diagnosis. However, early diagnosis is usually mandatory for successful t...

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Detalles Bibliográficos
Autores principales: Tebani, Abdellah, Abily-Donval, Lenaig, Afonso, Carlos, Marret, Stéphane, Bekri, Soumeya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964538/
https://www.ncbi.nlm.nih.gov/pubmed/27447622
http://dx.doi.org/10.3390/ijms17071167

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964538/
https://www.ncbi.nlm.nih.gov/pubmed/27447622
http://dx.doi.org/10.3390/ijms17071167

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