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Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia
3-Hydroxyisobutyryl-coenzyme A (CoA) hydrolase deficiency (HIBCHD; MIM: #250620) is a rare autosomal recessive inborn error of metabolism caused by a defect in the HIBCH enzyme, resulting in a deficiency of the conversion of 3-hydroxy-isobutyryl-CoA to 3-hydroxy-isobutyric acid, a critical step in v...
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| 出版年: | Intractable Rare Dis Res |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6743429/ https://ncbi.nlm.nih.gov/pubmed/31523596 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2019.01014 |
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