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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Vydáno v:Intractable Rare Dis Res
Hlavní autoři: Candelo, Estephania, Cochard, Léa, Caicedo-Herrera, Gabriela, Granados, Ana M., Gomez, Juan F., Díaz-Ordoñez, Lorena, Ramirez-Montaño, Diana, Pachajoa, Harry
Médium: Artigo
Jazyk:Inglês
Vydáno: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2019
Témata:
Brief Report
On-line přístup: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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