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Updated: Jun 14, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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GLA p.A143T的进一步临床和生化表型:一个法布里病新生儿查经验

Allison M Paltzer1, Allegra M Quadri1,2, Carly Rasmussen1

  • 1Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.

Nephron
|March 30, 2025
PubMed
概括

新生儿查发现了p.A143T GLA变种的个体,影响了酶水平,但健康结果不清楚. 需要进一步的研究来确定这种法布里病变体的临床意义.

关键词:
阿尔法-银酸酶A是一种费布里病是什么意思 费布里病是什么意思新生儿查 新生儿查p.A143T 这是一个很好的例子.

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