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Neurology India|May 8, 2015
Citrin deficiency: A treatable cause of acute psychosis in adultsSunita Bijarnia-Mahay, Johannes Häberle, Véronique Rüfenacht, et al.
The Tohoku Journal of Experimental Medicine|April 7, 2015
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysisShin Hisahara, Takashi Matsushita, Hiroyasu Furuyama, et al.
Brain & Development|August 3, 2012
Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variantsYoshiyuki Kobayashi, Nobutsune Ishikawa, Miyuki Tsumura, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|August 2, 2005
Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screeningYosuke Shigematsu, Ikue Hata, Yukie Tanaka, et al.
Indian Pediatrics|October 25, 2016
Ethylmalonic Encephalopathy in an Indian BoySunita Bijarnia-Mahay, Deepti Gupta, Yosuke Shigematsu, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|January 7, 2015
Inborn errors of ketone body utilizationTomohiro Hori, Seiji Yamaguchi, Haruo Shinkaku, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|November 29, 2005
A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometryErwin E W Jansen, K Michael Gibson, Yosuke Shigematsu, et al.
The Journal of Obstetrics and Gynaecology Research|February 7, 2015
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiencyHiroko Yamamoto, Daisuke Tachibana, Go Tajima, et al.
Brain & Development|May 19, 2015
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduriaToshiyuki Yamamoto, Seiichiro Yoshioka, Yoshinori Tsurusaki, et al.
Indian Journal of Pediatrics|September 2, 2016
Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive HepatomegalyShivani Deswal, Sunita Bijarnia-Mahay, Vinamr Manocha, et al.
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