Cargando…

Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities

BACKGROUND: Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in an autosomal recessive manner. The incidence of IMDs varies from country to country and within diffe...

Descripción completa

Detalles Bibliográficos
Autores principales: Hazan, G., Hershkovitz, E., Staretz-Chacham, O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7687810/
https://www.ncbi.nlm.nih.gov/pubmed/33239050
http://dx.doi.org/10.1186/s13023-020-01578-3