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Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Higashi K, Sonoda Y, Kaku N, Fujii F, Yamashita F, Lee S, Tocan V, Ebihara G, Matsuoka W, Tetsuhara K, Sonoda M, Chong PF, Mushimoto Y, Kojima-Ishii K, Ishimura M, Koga Y, Fukuta A, Tsuchihashi NA, Kikuchi Y, Karashima T, Sawada T, Hotta T, Yoshimitsu M, Terazono H, Tajiri T, Nakagawa T, Sakai Y, Nakamura K, Ohga S. Higashi K, et al. Among authors: tsuchihashi na. Mol Genet Genomic Med. 2024 Apr;12(4):e2427. doi: 10.1002/mgg3.2427. Mol Genet Genomic Med. 2024. PMID: 38553911 Free PMC article. Review.
Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Iwasa YI, Nishio SY, Yoshimura H, Sugaya A, Kataoka Y, Maeda Y, Kanda Y, Nagai K, Naito Y, Yamazaki H, Ikezono T, Matsuda H, Nakai M, Tona R, Sakurai Y, Motegi R, Takeda H, Kobayashi M, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Furutate S, Oka SI, Kubota T, Arai Y, Kobayashi Y, Kikuchi D, Shintani T, Ogasawara N, Honkura Y, Izumi S, Hyogo M, Ninoyu Y, Suematsu M, Nakayama J, Tsuchihashi N, Okami M, Sakata H, Yoshihashi H, Kobayashi T, Kumakawa K, Yoshida T, Esaki T, Usami SI. Iwasa YI, et al. Among authors: tsuchihashi n. Hum Genet. 2022 Apr;141(3-4):993-995. doi: 10.1007/s00439-021-02392-y. Hum Genet. 2022. PMID: 34727261 Free PMC article. No abstract available.
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Iwasa YI, Nishio SY, Yoshimura H, Sugaya A, Kataoka Y, Maeda Y, Kanda Y, Nagai K, Naito Y, Yamazaki H, Ikezono T, Matsuda H, Nakai M, Tona R, Sakurai Y, Motegi R, Takeda H, Kobayashi M, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Furutate S, Oka SI, Kubota T, Arai Y, Kobayashi Y, Kikuchi D, Shintani T, Ogasawara N, Honkura Y, Izumi S, Hyogo M, Ninoyu Y, Suematsu M, Nakayama J, Tsuchihashi N, Okami M, Sakata H, Yoshihashi H, Kobayashi T, Kumakawa K, Yoshida T, Esaki T, Usami SI. Iwasa YI, et al. Among authors: tsuchihashi n. Hum Genet. 2022 Apr;141(3-4):865-875. doi: 10.1007/s00439-021-02351-7. Epub 2021 Sep 18. Hum Genet. 2022. PMID: 34536124 Free PMC article.
79 results