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The impact of consanguinity on the frequency of inborn errors of metabolism

Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders present in all ethnic groups. We investigated the frequency of consanguinity among parents of newborns with IEM diagnosed by neonatal screening. Data were obtained from 15 years of expanded newborn screening for selecte...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Metab Rep
Asıl Yazarlar: Afzal, Raja Majid, Lund, Allan Meldgaard, Skovby, Flemming
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2018
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5772004/
https://ncbi.nlm.nih.gov/pubmed/29387562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.11.004
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