"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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Príomhchruthaitheoirí: Asburçe Olgaç (Údar), Leyla Tümer (Údar), Serdar Ceylaner (Údar), Gürsel Biberoğlu (Údar), Alev Hasanoğlu (Údar)
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Foilsithe / Cruthaithe: Galenos Yayinevi, 2018-03-01T00:00:00Z.
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3rd Floor Main Library

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