Art
J-GLOBAL ID：202002298860654879   Reference number：20A2747819

Problems of definitive diagnosis in VLCAD deficiency (related to mutation in newly diagnosed case)

VLCAD欠損症における問題点(新たに診断された症例の変異から)
Author (1)：
SASAI HIDEO

About SASAI HIDEO

(岐阜大 医 病院 小児科)

About 岐阜大 医 病院 小児科


Material：
日本マススクリーニング学会誌  (日本マス・スクリーニング学会誌)

About 日本マススクリーニング学会誌


Volume： 30  Issue： 2  Page： 147  Publication year： Sep. 01, 2020 
JST Material Number： L3053A  ISSN： 0917-3803  Document type： Article
Article type： 会議録記事  Country of issue： Japan (JPN)  Language： JAPANESE (JA)
Thesaurus term：
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human

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,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
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All keywords is available on JDreamIII(charged).
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genetic variation

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,...
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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.

Terms in the title (5)：
Terms in the title
Keywords automatically extracted from the title.
VLCAD欠損症

About VLCAD欠損症

, 
問題点

About 問題点

, 
診断

About 診断

, 
症例

About 症例

, 
変異

About 変異


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