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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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Detalles Bibliográficos
Autores principales: Afzal, Raja Majid, Lund, Allan Meldgaard, Skovby, Flemming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772004/
https://www.ncbi.nlm.nih.gov/pubmed/29387562
http://dx.doi.org/10.1016/j.ymgmr.2017.11.004

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