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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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Afzal, Raja Majid, Lund, Allan Meldgaard, Skovby, Flemming
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Acesso em linha: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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