"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages are performed. Isovaleric aciduria is an orga...
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| Main Authors: | , , , , |
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| Format: | Book |
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Galenos Yayinevi,
2018-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |