"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

• Príomhchruthaitheoirí: Asburçe Olgaç (Údar), Leyla Tümer (Údar), Serdar Ceylaner (Údar), Gürsel Biberoğlu (Údar), Alev Hasanoğlu (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Galenos Yayinevi, 2018-03-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

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...