“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...
| 出版年: | Journal of Pediatric Research |
|---|---|
| 主要な著者: | Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu |
| フォーマット: | 論文 |
| 言語: | 英語 |
| 出版事項: |
Ege University, Faculty of Medicine, Department of Pediatrics and Ege Children Foundation
2018-03-01
|
| 主題: | |
| オンライン･アクセス: |
http://jpedres.org/archives/archive-detail/article-preview/double-hit-homozygous-mutations-for-two-different-/18777
|
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