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J-GLOBAL ID：201802282042943689   Reference number：18A1014099

Lysosomal Acid Lipase Deficiency in Japan: A Case Report of Siblings and a Literature Review of Cases in Japan

日本におけるリソソーム酸性リパーゼ欠損症:日本での症例報告と文献レビュー

Author (3)： Ikari Naoyuki (Department of Pediatrics, Nippon Medical School) ,  Shimizu Akira (Department of Diagnostic Pathology, Nippon Medical School Hospital) ,  Asano Takeshi (Department of Pediatrics, Nippon Medical School)
Material： Journal of Nippon Medical School  (日本医科大学雑誌)
Volume： 85  Issue： 2  Page： 131-137(J-STAGE)  Publication year： 2018 
JST Material Number： F0887A  ISSN： 1345-4676  CODEN： JNMSF5  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *lipoidosis ,...
Semi thesaurus term： *Wolman Disease ,...

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Author keywords (3)： lysosomal acid lipase deficiency ,  Wolman disease ,  Japan

JST classification (1)： Congenital diseases,deformities in general.  (GD03010V)

Reference (30)：

• 1. Burton BK, Balwani M, Feillet F, Barić I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sánchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG: A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med 2015; 373: 1010-1020.
• 2. Konno T, Fujii M: Wolman's Disease: The First Case in Japan. Tohoku J Exp Med 1966; 90: 375-389.
• 3. Eto Y, Kitagawa T: Wolman's disease with hypolipiproteinuria and acanthocytosis: clinical and biochemical observations. J Pediatr 1970; 77: 862-867.
• 4. Uno Y, Taniguchi A, Tanaka E: Histochemical studies in Wolman's disease's - report of an autopsy case accompanied with a large amount of milky ascites -. Acta Pathologica Japonica 1973; 23: 779-790.
• 5. Ishigami K, Fujino O, Sakao H, Otake K, Asano G, Hashimoto K, Fujita T, Matsuoka K, Suzuki Y, Nasaki M, Hosoi M: An autopsy case of Wolman's disease. (The title is written in Japanese, English is not available. We translated Japanese title in English). Journal of Nippon Medical School 1980; 47: 708.

Terms in the title (4)： 日本 ,  リソソーム酸性リパーゼ欠損症 ,  症例報告 ,  文献レビュー