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Updated: Sep 10, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

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ハイパーアモネミアの成人における臨床的,生化学的,および分子学的発見:フランスの二中心的遡及研究

Julien Maquet1, Clément Pontoizeau2, Apolline Imbard3

  • 1Department of Internal Medicine, Toulouse University hospital, Toulouse, France; Reference Center for Inborn Errors of Metabolism, Toulouse University hospital, G2M Network, Toulouse, France; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker Hospital, APHP, Université Paris-Cité, G2M Network, MetabERN, Paris, France.

Molecular genetics and metabolism
|August 20, 2025
PubMed
まとめ

大人における高アンモニア症には様々な原因があり,遺伝的ではなく,しばしば得られたものです. 遺伝代謝疾患 (IMD) の遺伝子検査は,生化学的プロファイルが示唆される場合に最も効果的です.

キーワード:
大人アスパラギネスハイパーアモネミア遺伝的代謝疾患

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