Art

J-GLOBAL ID：201902257972875779   Reference number：19A1280168

A Nationwide Survey on Danon Disease in Japan

日本におけるダノン病に関する全国調査【JST・京大機械翻訳】

Author (14)： Sugie Kazuma (Department of Neurology, Nara Medical University School of Medicine, Nara 634-8521, Japan) ,  Sugie Kazuma (Department of Neuromuscular Research, National Institute of Neurology, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan) ,  Komaki Hirofumi (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry Hospital, Tokyo 187-8502, Japan) ,  Eura Nobuyuki (Department of Neurology, Nara Medical University School of Medicine, Nara 634-8521, Japan) ,  Shiota Tomo (Department of Neurology, Nara Medical University School of Medicine, Nara 634-8521, Japan) ,  Onoue Kenji (Department of Cardiology, Nara Medical University School of Medicine, Nara 634-8521, Japan) ,  Tsukaguchi Hiroyasu (Department of Nephrology, Kansai Medical University, Osaka 573-1010, Japan) ,  Minami Narihiro (Department of Neuromuscular Research, National Institute of Neurology, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan) ,  Ogawa Megumu (Department of Neuromuscular Research, National Institute of Neurology, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan) ,  Kiriyama Takao (Department of Neurology, Nara Medical University School of Medicine, Nara 634-8521, Japan) ,  Kataoka Hiroshi (Department of Neurology, Nara Medical University School of Medicine, Nara 634-8521, Japan) ,  Saito Yoshihiko (Department of Cardiology, Nara Medical University School of Medicine, Nara 634-8521, Japan) ,  Nonaka Ikuya (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry Hospital, Tokyo 187-8502, Japan) ,  Nishino Ichizo (Department of Neuromuscular Research, National Institute of Neurology, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan)
Material： International Journal of Molecular Sciences (Web)  (Int J Mol Sci (Web))
Volume： 19  Issue： 11  Page： 3507  Publication year： 2018 
JST Material Number： U7038A  ISSN： 1422-0067  CODEN： IJMCFK  Document type： Article
Article type： 原著論文  Country of issue： Switzerland (CHE)  Language： ENGLISH (EN)

Abstract/Point： Danon disease, an X-linked dom...

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Thesaurus term： man ,  cardiac insufficiency ,  dominance ,  woman ,  membrane protein ,  *variation(biology) ,  muscular disease ,  lysosome ,  questionnaire ,  heart transplantation ,  vacuole ,  cardiomyopathy ,  human(primates)
Semi thesaurus term： ハプロ不全 ,  ヌル突然変異 ,  LAMP , 【Automatic Indexing@JST】

Author keywords (9)： Danon disease ,  lysosome-associated membrane protein-2 (LAMP-2) ,  hypertrophic cardiomyopathy ,  myopathy ,  autophagy ,  heart transplantation ,  cerebral infarction ,  autophagic vacuoles with sarcolemmal features (AVSF) ,  Wolf-Parkinson-White (WPW) syndrome

JST classification (4)： Genetic variation  (EC01030Y) ,  Diagnostics of metabolic diseases,nutritional diseases.  (GD05020U) ,  Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Reference (36)：

• Nishino, I.; Fu, J.; Tanji, K.; Yamada, T.; Shimojo, S.; Koori, T.; Mora, M.; Riggs, J.E.; Oh, S.J.; Koga, Y.; et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000, 406, 906-910.
• Sugie, K.; Yamamoto, A.; Murayama, K.; Oh, S.J.; Takahashi, M.; Mora, M.; Riggs, J.E.; Colomer, J.; Iturriaga, C.; Meloni, A.; et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002, 58, 1773-1778.
• Danon, M.J.; Oh, S.J.; DiMauro, S.; Manaligod, J.R.; Eastwood, A.; Naidu, S.; Schliselfeld, L.H. Lysosomal glycogen storage disease with normal acid maltase. Neurology 1981, 31, 51-57.
• Sugie, K.; Nishino, I. Lysosomal Membrane Disorders: LAMP-2 Deficiency. In Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 5th ed.; Rosenberg, R.N., Pascual, J.M., Eds.; Elsevier: Amsterdam, The Netherlands, 2014; pp. 411-417.
• Nishino, I.; Yamamoto, A.; Sugie, K.; Hirano, M.; Nonaka, I. Danon disease and related disorders. Acta Myologica 2001, 20, 120-124.

Terms in the title (2)： 日本 ,  調査