Jamiyan Purevsuren

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Naoaki Shibata, Yuki Hasegawa, Kenji Yamada et al. · Molecular Genetics and Metabolism Reports · 2018 · 129 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +13

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

Yuichi Mushimoto, Seiji Fukuda, Yuki Hasegawa et al. · Molecular Genetics and Metabolism · 2010 · 107 citations

Life Sciences, Biochemistry, Molecular Medicine +7

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay

Seiji Yamaguchi, Hong Li, Jamiyan Purevsuren et al. · Molecular Genetics and Metabolism · 2012 · 53 citations

Life Sciences, Pharmacology, Pharmacotherapy +16

Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases

Kenji Yamada, Hironori Kobayashi, Ryosuke Bo et al. · Brain and Development · 2015 · 42 citations

Medicine, Biochemistry, Pediatrics +3

Mutations in <i>HADHB</i>, which encodes the β‐subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy

Misako Naiki, Nobuhiko Ochi, Yusuke S. Kato et al. · American Journal of Medical Genetics Part A · 2014 · 41 citations

Life Sciences, Genetics, Molecular Genetics +17