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J-GLOBAL ID：201702220357921308   Reference number：17A1537903

指定難病最前線 Volume50 メチルグルタコン酸尿症の主要症状と治療

Author (1)：
SAKAMOTO OSAMU

About SAKAMOTO OSAMU

(東北大 大学院医学系研究科 発生・発達医学 小児病態学分野)

About 東北大 大学院医学系研究科 発生・発達医学 小児病態学分野


Material：
新薬と臨床  (Journal of New Remedies & Clinics)

About 新薬と臨床


Volume： 66  Issue： 11  Page： 1464-1469  Publication year： Nov. 10, 2017 
JST Material Number： G0596A  ISSN： 0559-8672  CODEN： SHRIA  Document type： Article
Article type： 解説  Country of issue： Japan (JPN)  Language： JAPANESE (JA)
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*symptom

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,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
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*メチルグルタコン酸尿症

About メチルグルタコン酸尿症

,...
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JST classification (2)：
JST classification
Category name(code) classified by JST.
Congenital diseases,deformities in general. 
(GD03010V)

About Congenital diseases,deformities in general.

,  Metabolic diseases,nutritional diseases in general. 
(GD05010J)

About Metabolic diseases,nutritional diseases in general.

Reference (46)：
  • Wortmann SB, Kluijtmans LA, Engelke UF, et al. The 3-methylglutaconic acidurias : what's new?. J Inherit Metab Dis. 2012 ; 35:13-22.
  • 坂本修.3-メチルグルタコン酸尿症I型 (3-メチルグルタコニルCoAヒドラターゼ欠損症),先天代謝異常症候群(第2版)上.日本臨牀別冊(新領域別症候群)2012;372-374.
  • Narisawa K, Gibson KM, Sweetman L, et al. Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. J Clin Invest. 1986 ; 77 : 1148-1152.
  • Ferreira C, Thompson R, Vernon H. Barth Syndrome. GeneReviews : http://www.ncbi.nlm.nih.gov/books/NBK247162/
  • 坂本修.3-メチルグルタコン酸尿症II型 (Barth症候群),先天代謝異常症候群(第2版)上.日本臨牀別冊(新領域別症候群)2012;375-377.
ｍore...
Terms in the title (5)：
Terms in the title
Keywords automatically extracted from the title.
指定難病

About 指定難病

, 
酸

About 酸

, 
尿

About 尿

, 
症状

About 症状

, 
治療

About 治療


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