Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) is a rare X-linked disorder caused by a mutation in the HSD17B10 gene. Fewer than 30 patients with this disorder have been reported worldwide. The classical infantile form of HSD10 disease is characterized by a progressive neurod...

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Publicado no:JIMD Rep
Main Authors: Akagawa, Shohei, Fukao, Toshiyuki, Akagawa, Yuko, Sasai, Hideo, Kohdera, Urara, Kino, Minoru, Shigematsu, Yosuke, Aoyama, Yuka, Kaneko, Kazunari
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5362553/
https://ncbi.nlm.nih.gov/pubmed/27306202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_570
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