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Human Genome Variation|May 3, 2019
A new heterozygous compound mutation in the <i>CTSA</i> gene in galactosialidosisHideki Nakajima, Miki Ueno, Kaori Adachi, et al.
Brain & Development|April 18, 2006
Fibroblast screening for chaperone therapy in beta-galactosidosisHiroyuki Iwasaki, Hiroshi Watanabe, Masami Iida, et al.
Case Reports in Pediatrics|November 1, 2017
Corrigendum to "Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child"Ryo Suzuki, Atsushi Tanaka, Toshiharu Matsui, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology|April 8, 2017
Severe demyelination in a patient with a late infantile form of Niemann-Pick disease type CTsuyoshi Kodachi, Shizuko Matsumoto, Masashi Mizuguchi, et al.
Brain & Development|May 17, 2002
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complexToshiyuki Yamamoto, Judy R Pipo, Jian-Hua Feng, et al.
Toxicological Sciences : an Official Journal of the Society of Toxicology|April 18, 2003
The effect of cigarette smoke exposure and ascorbic acid intake on gene expression of antioxidant enzymes and other related enzymes in the livers and lungs of Shionogi rats with osteogenic disordersEtsuko Ueta, Yuko Tadokoro, Tomoko Yamamoto, et al.
No to Hattatsu = Brain and Development|August 17, 2018
[Clinical characteristics of early juvenile GM2 gangliosidosis: a case report]Hiroya Ono, Chitose Sugiura, Aya Narita, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|September 13, 2002
Response of anti-oxidant enzymes mRNA in the neonatal rat liver exposed to 1,2,3,4-tetrachlorodibenzo-p-dioxin via lactationYumi Kono, Shin'Ichi Okada, Yusaku Tazawa, et al.
Brain & Development|January 20, 2004
Gastrin-releasing peptide receptor (GRPR) locus in Japanese subjects with autismTetsuya Marui, Ohiko Hashimoto, Eiji Nanba, et al.
European Journal of Medicinal Chemistry|December 20, 2025
Neutral sp<sup>2</sup>-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseasesM Isabel García-Moreno, Kiyoko Kawakami, Eiji Nanba, et al.
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