Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study von Yamada, Hiroyuki, Ohno, Koyo, Shiota, Madoka, Togawa, Masami, Utsunomiya, Yasushi, Akaboshi, Shinjiro, Tsuchie, Hirokazu, Okada, Takayoshi, Oguri, Masayosi, Higami, Shigeru, Noma, Hisashi, Maegaki, Yoshihiro

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Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy von Abe, Yuichi, Sakai, Tetsuro, Okumura, Akihisa, Akaboshi, Shinjiro, Fukuda, Mitsumasa, Haginoya, Kazuhiro, Hamano, Shin-ichiro, Hirano, Kouichi, Kikuchi, Kenjiro, Kubota, Masaya, Lee, Sooyoung, Maegaki, Yoshihiro, Sanefuji, Masafumi, Shimozato, Sachiko, Suzuki, Motomasa, Suzuki, Yasuhiro, Takahashi, Mitsugi, Watanabe, Kenji, Mizuguchi, Masashi, Yamanouchi, Hideo

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Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination von Shimojima, Keiko, Shimada, Shino, Tamasaki, Akiko, Akaboshi, Shinjiro, Komoike, Yuta, Saito, Akira, Furukawa, Toru, Yamamoto, Toshiyuki

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Multicenter, Open-Label, Randomized Controlled Trial of Warfarin and Edoxaban Tosilate Hydrate for the Treatment of Deep Vein Thrombosis in Persons with Severe Motor Intellectual D... von OHMORI, HIROMITSU, NAKAMURA, MASHIO, KADA, AKIKO, SAITO, AKIKO M., SANAYAMA, YOSHITAMI, SHINAGAWA, TOMOE, FUJITA, HIROSHI, WAKISAKA, AKIKO, MARUHASHI, KEIKO, OKUMURA, AKIKO, TAKIZAWA, NOBORU, MURATA, HIROAKI, INOUE, MICHIKO, KANEKO, HIDEO, TANIGUCHI, HIDEKAZU, KAWASAKI, MASAYUKI, SANO, NOZOMI, AKABOSHI, SHINJIRO, TANUMA, NAOYUKI, SONE, SUI, KUMODE, MASAO, TAKECHI, TOMOKI, KORETSUNE, YUKIHIRO, SUMIMOTO, RYO, MIYANOMAE, TAKESHI

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Clinical and genetic characteristics of patients with Doose syndrome von Hinokuma, Nodoka, Nakashima, Mitsuko, Asai, Hideyuki, Nakamura, Kazuyuki, Akaboshi, Shinjiro, Fukuoka, Masataka, Togawa, Masami, Oana, Shingo, Ohno, Koyo, Kasai, Mariko, Ogawa, Chikako, Yamamoto, Kazuna, Okumiya, Kiyohito, Chong, Pin Fee, Kira, Ryutaro, Uchino, Shumpei, Fukuyama, Tetsuhiro, Shinagawa, Tomoe, Miyata, Yohane, Abe, Yuichi, Hojo, Akira, Kobayashi, Kozue, Maegaki, Yoshihiro, Ishikawa, Nobutsune, Ikeda, Hiroko, Amamoto, Masano, Mizuguchi, Takeshi, Iwama, Kazuhiro, Itai, Toshiyuki, Miyatake, Satoko, Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro

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Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms von Blasi, Paola, Boyl, Pietro Pilo, Ledda, Mario, Novelletto, Andrea, Gibson, K.Michael, Jakobs, Cornelis, Hogema, Boris, Akaboshi, Shinjiro, Loreni, Fabrizio, Malaspina, Patrizia

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Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy von YAMAMOTO, Toshiyuki, PIPO, Judy R, AKABOSHI, Shinjiro, NARAI, Sakae

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Epilepsy in Peroxisomal Diseases von Takahashi, Yukitoshi, Suzuki, Yasuyuki, Kumazaki, Kaori, Tanabe, Yuzo, Akaboshi, Shinjiro, Miura, Kiyokuni, Shimozawa, Nobuyuki, Kondo, Naomi, Nishiguchi, Toshihiro, Terada, Kihei, Orii, Tadao

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Case of a mentally retarded child with non‐24 hour sleep–wake syndrome caused by deficiency of melatonin secretion von Akaboshi, Shinjiro, Inoue, Yu‐Ichi, Kubota, Norika, Takeshita, Kenzo

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Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency von Akaboshi, Shinjiro, Hogema, Boris M., Novelletto, Andrea, Malaspina, Patrizia, Salomons, Gajja S., Maropoulos, George D., Jakobs, Cornelis, Grompe, Markus, Gibson, K. Michael

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Increased cerebral choline-compounds in Duchenne muscular dystrophy von Kato, Toshinori, Nishina, Masami, Matsushita, Kazuhiro, Hori, Eitaro, Akaboshi, Shinjiro, Takashima, Sachio

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Bile Acid Profiles in a Peroxisomal D-3-Hydroxyacyl-CoA Dehydratase/D-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency von Une, Mizuho, Konishi, Masaki, Suzuki, Yasuyuki, Akaboshi, Shinjiro, Yoshii, Michiko, Kuramoto, Taiju, Fujimura, Kingo

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Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts von YANO, Tamami, TANIGUCHI, Miyako, AKABOSHI, Shinjiro, VANIER, Marie-Thèrése, TAI, Tadashi, SAKURABA, Hitoshi, OHNO, Kousaku

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Peroxisomal bifunctional enzyme deficiency: serial neurophysiological examinations of a case von Akaboshi, Shinjiro, Tomita, Yutaka, Suzuki, Yasuyuki, Une, Mizuho, Sohmae, Osamu, Takashima, Sachio, Takeshita, Kenzo

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Increased levels of GM 2 ganglioside in fibroblasts from a patient with juvenile Niemann–Pick disease type C von Watanabe, Yasuhiro, Akaboshi, Shinjiro, Ishida, Gen, Takeshima, Takao, Yano, Tamami, Taniguchi, Miyako, Ohno, Kousaku, Nakashima, Kenji

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NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C von YAMAMOTO, T, NANBA, E, OKADA, S, TANAKA, A, SAKURAGAWA, N, MILLAT, G, VANIER, M. T, MORRIS, J. A, PENTCHEV, P. G, OHNO, K, NINOMIYA, H, HIGAKI, K, TANIGUCHI, M, HAIDI ZHANG, AKABOSHI, S, WATANABE, Y, TAKESHIMA, T, INUI, K

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A case of atypical absence seizures induced by leuprolide acetate von Akaboshi, Shinjiro, Takeshita, Kenzo

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Developmental and pathological expression of peroxisomal enzymes: their relationship of d-bifunctional protein deficiency and Zellweger syndrome von Itoh, Masayuki, Suzuki, Yasuyuki, Akaboshi, Shinjiro, Zhang, Zhongyi, Miyabara, Shinichi, Takashima, Sachio

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Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1) von Torisu, Hiroyuki, Yamamoto, Toshiyuki, Fujiwaki, Takehisa, Kadota, Mitsutaka, Oshimura, Mitsuo, Kurosawa, Kenji, Akaboshi, Shinjiro, Oka, Akira

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HEAT PUMP SYSTEM von AKABOSHI, Shinjiro, SABUSAWA, Toshikazu, KAWAMURA, Kuniaki

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