The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y.
Fukao T, et al. Among authors: hasegawa y.
J Hum Genet. 2014 Nov;59(11):609-14. doi: 10.1038/jhg.2014.79. Epub 2014 Sep 18.
J Hum Genet. 2014.
PMID: 25231369