論 文(原著) 1991年〜1989年
番号 | 著 者 名 (共著者も記入) |
論 文 題 名 | 発表誌名 | 巻 | 初頁〜終頁 | 発行年 |
54 | Nishimoto J, Nanba E, Inui K, Okada S, Suzuki K. | GM1-gangliosidosis (genetic β-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. | Am J Hum Genet | 49 | 566-574 | 1991 |
55 | Midorikawa M, Inui K, Okada S, Yabuuchi H, Ogura K, Handa S. | Uptake and metabolism of radiolabelled GM1-ganglioside in skin fibroblasts from controls and patients with GM1-gangliosidosis. | J Inher Metab Dis | 14 | 721-729 | 1991 |
56 | Tsukamoto H, Inui K, Fukushima H, Nishigaki T, Taniike M, Tanaka J, Okada S. | Molecular study of Duchenne and Becker muscular dystrophies in Japanese. | J Inher Metab Dis | 14 | 819-824 | 1991 |
57 | Taniike M, Inui K, Shinoda K, Okada S, Yabuuchi H, Shiotani Y | Localization of sphingolipid activator protein-1 (SAP-1) in the brain of a normal human and a patient with metachromatic leukodystrophy. | Acta Histochem Cytochem | 24 | 215-222 | 1991 |
58 | 田中 順子、谷池 雅子、乾 幸治、永井 利三郎、岡田 伸太郎 | 末梢神経障害を伴った小児ミトコンドリア脳筋症 | 臨床神経学 | 31 | 772-774 | 1991 |
59 | Inui K, Nanba R, Ihara Y, Nobukuni K, Taniike M, Midorikawa M, Tsukamoto H, Okada S. | A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies. | J Neurol | 237 | 491-493 | 1990 |
60 | Inui K, Nishimoto J, Taniike M, Midorikawa M, Tsukamoto H, Okada S, Yabuuchi H. | Study of pathogenesis in twitcher mouse, an enzymatically authentic model of Krabbe's disease. | J Neurol Sci | 100 | 124-130 | 1990 |
61 | Toda K, Kobayashi T, Goto I, Ohno K, Eto Y, Inui K, Okada S | Lysosulfatide (Sulfo-galactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy. | J Neurochem | 55 | 1585-1591 | 1990 |
62 | Taniike M, Yamano T, Shimada M, Inui K, Okada S. | Ultrastructural pathology of rectum and skin biopsy specimens in lysosomal storage disease. | Acta Histochem Cytochem | 23 | 81-92 | 1990 |
63 | Yamashita K, Inui K, Totani K, Kochibe N, Furukawa M, Okada S | Characteristics of asparagine-linked sugar chains of sphingolipid activator protein 1 purified from normal human liver and GM1 gangliosidosis (type 1) liver. | Biochemistry USA | 29 | 3030-3039 | 1990 |
64 | Sano A, Hineno T, Mizuno T, Kondoh K, Ueno S, Kakimoto Y, Inui K | Sphingolipid hydrolase activator proteins and their precursors. | Biochem Biophys Res Commun | 165 | 1191-1197 | 1989 |
65 | Taniike M, Inui K, Hirabayashi Y, Tsukamoto H, Nishimoto J, Midorikawa M, Okada S, Yabuuchi H. | Immunohistochemical demonstration of GM2-gangloside in the central nervous system of a 19-week-old fetus of Tay-Sachs disease. | J Inher Metab Dis | 2 | 372-374 | 1989 |
66 | Inui K, Nishimoto J, Taniike M, Midorikawa M, Tukamoto H, Okada S, Yabuuchi H. | Study of pathogenesis in twitcher mouse, an enzymatically authentic model of human Krabbe's disease. | J Inher Metab Dis | 2 | 383-385 | 1989 |
67 | Inui K, Nishimoto J, Okada S, Yabuuchi H. | Impaired cholesterol esterification in cultured skin fibroblasts from patient with I-cell disease and pseudo-Hurler polydystrophy. | Biochem Int | 18 | 1129-1135 | 1989 |
68 | 隅 清臣、長浦 智明、板垣 裕輔、乾 幸治、安部 治郎 | Cytochrome c oxidse の進行性低下を伴ったMELAS の1例 | 臨床神経学 | 29 | 901-908 | 1989 |
69 | 西本 潤史、塚本 浩子、乾 幸治、岡田 伸太郎、薮内百治、玉井 浩、美濃 真、賀佐 伸省、館 睦子、山野 恒一 | 臨床症状に大きな差のあるムコリピドーシスV型の2家系 | 脳と発達 | 21 | 49-55 | 1989 |
70 | 坂田 尚己、隅 清臣、長浦 智明、西垣 敏紀、赤木 幹弘、小林 晏、乾 幸治、西本 潤史、谷池 雅子、岡田 伸太郎、薮内百治、井籐 尚之、鈴木 照子 | 生化学的診断法により診断し得たNiemann-Pick病C型の1例 | 日本小児科学会雑誌 | 93 | 2117-2122 | 1989 |
71 | 高橋 均、坂田 育弘、泉本 源太郎、安富 正幸、足立 幸彦、山本 俊夫、佐藤 隆夫、橋本 重夫、石神 亙、西本 潤史、乾 幸治、岡田 伸太郎 | CO2ナルコーシスに陥った糖原病U型(若年型)の1例 | 近畿大医誌 | 13 | 647-654 | 1989 |