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Updated: Jun 16, 2025

Functional Complementation Analysis FCA: A Laboratory Exercise Designed and Implemented to Supplement the Teaching of Biochemical Pathways
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在AADC缺乏症中的轻度/中度表型:专注于芳香氨基酸脱碳酶蛋白质

Giovanni Bisello1, Rossella Franchini1, Cristian Andres Carmona Carmona1

  • 1Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.

Journal of inherited metabolic disease
|August 21, 2024
PubMed
概括

带有轻度/中度表型的芳香氨基酸脱碳酶 (AADC) 缺乏症患者需要量身定制的疗法. 了解它们的基因型和酶活性对于有效的治疗策略至关重要.

关键词:
在AADC缺陷中,AADC的缺陷.芳香氨基酸脱碳酶酶是一种芳香氨基酸脱碳酶.化合物异构性异构的形成.基因型表型相关性相关性轻度/中度的表型 轻度/中度的表型

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