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Updated: Jun 10, 2026

Quantification of Coenzyme A in Cells and Tissues
08:51

Quantification of Coenzyme A in Cells and Tissues

Published on: September 27, 2019

短鎖アシルコエンザイムAデヒドロゲネーゼ欠乏症における臨床的,生化学的,および遺伝的異質性

Bianca T van Maldegem1, Marinus Duran, Ronald J A Wanders

  • 1Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. b.t.vanmaldegem@amc.uva.nl

JAMA
|August 24, 2006
PubMed
まとめ

短鎖アシルコエンザイムA (CoA) デヒドロゲナーゼ (SCAD) 欠乏症は,これまで考えられていたよりも一般的であり,特定の遺伝子型に関連していない非特異的な症状があります. 現在の証拠は,新生児のスクリーニングプログラムには適していないことを示唆しています.

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