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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| 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 |