The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism

BACKGROUND: Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the...

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Detalles Bibliográficos
Autores principales: Purevsuren, Jamiyan, Bolormaa, Baasandai, Narantsetseg, Chogdon, Batsolongo, Renchindorj, Enkhchimeg, Ochirbat, Bayalag, Munkhuu, Hasegawa, Yuki, Shintaku, Haruo, SeijiYamaguchi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094263/
https://www.ncbi.nlm.nih.gov/pubmed/27830119
http://dx.doi.org/10.1016/j.ymgmr.2016.10.008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094263/
https://www.ncbi.nlm.nih.gov/pubmed/27830119
http://dx.doi.org/10.1016/j.ymgmr.2016.10.008

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