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Journal of Inherited Metabolic Disease|October 6, 2021
β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiencyYoichi Wada, Natsuko Arai-Ichinoi, Atsuo Kikuchi, et al.BMC Pediatrics|September 23, 2020
Hypoketotic hypoglycemia in citrin deficiency: a case reportYoichi Wada, Natsuko Arai-Ichinoi, Atsuo Kikuchi, et al.Journal of Inherited Metabolic Disease|April 16, 2021
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of ageNatsuko Arai-Ichinoi, Atsuo Kikuchi, Yoichi Wada, et al.Molecular Genetics and Metabolism|March 27, 2019
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variantsShinya Iwasawa, Atsuo Kikuchi, Yoichi Wada, et al.Molecular Genetics and Metabolism|January 27, 2012
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, et al.The Tohoku Journal of Experimental Medicine|May 29, 2015
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric AcidemiaOsamu Sakamoto, Natsuko Arai-Ichinoi, Hiroshi Mitsubuchi, et al.Brain & Development|March 2, 2016
Mucolipidosis IV: A milder form with novel mutations and serial MRI findingsTakashi Shiihara, Mio Watanabe, Kengo Moriyama, et al.Brain & Development|February 2, 2017
Reversible brain atrophy in glutaric aciduria type 1Yurika Numata-Uematsu, Osamu Sakamoto, Yosuke Kakisaka, et al.Molecular Genetics and Metabolism Reports|November 18, 2020
Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiencyYasuko Mikami-Saito, Masamitsu Maekawa, Yoichi Wada, et al.Brain & Development|December 5, 2021
Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiencyTakehiko Inui, Yoichi Wada, Moriei Shibuya, et al.Pageof 3