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Brain & Development|November 25, 2020
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiencyAtsushi Morita, Takashi Enokizono, Tatsuyuki Ohto, et al.Neurology. Genetics|February 12, 2020
Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxiaYukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, et al.Journal of Lipid Research|January 19, 2012
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctataNoriyuki Kanzawa, Nobuyuki Shimozawa, Ronald J A Wanders, et al.JIMD Reports|June 22, 2018
Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked AdrenoleukodystrophyMasashi Morita, Shun Matsumoto, Airi Sato, et al.Molecular Genetics and Metabolism Reports|November 30, 2016
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosisKenichiro Yamada, Misako Naiki, Shin Hoshino, et al.Journal of Human Genetics|September 1, 2005
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type IITomomi Kato, Zenichiro Kato, Izumi Kuratsubo, et al.Molecular Genetics and Metabolism|June 6, 2021
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in JapanYuta Koto, Norio Sakai, Yoko Lee, et al.Journal of Inherited Metabolic Disease|December 17, 2020
Bone marrow transplantation into Abcd1-deficient mice: Distribution of donor derived-cells and biological characterization of the brain of the recipient miceMasashi Morita, Taro Kaizawa, Taiki Yoda, et al.Brain & Development|February 13, 2003
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79LNaohide Shiroma, Naomi Kanazawa, Zenichiro Kato, et al.The Journal of Medical Investigation : JMI|November 8, 2023
Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophyKatsuya Morito, Ryota Shimizu, Hanif Ali, et al.Pageof 8