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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Metab Rep
Hauptverfasser: Purevsuren, Jamiyan, Bolormaa, Baasandai, Narantsetseg, Chogdon, Batsolongo, Renchindorj, Enkhchimeg, Ochirbat, Bayalag, Munkhuu, Hasegawa, Yuki, Shintaku, Haruo, SeijiYamaguchi
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2016
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5094263/
https://ncbi.nlm.nih.gov/pubmed/27830119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.10.008
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