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Updated: Jun 26, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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在巴西患者中通过大规模并行测序对糖尿病的诊断

Rafael Hencke Tresbach1, Fernanda Sperb-Ludwig1, Rodrigo Ligabue-Braun2

  • 1BRAIN Laboratory (Basic Research and Advanced Investigations in Neurosciences), Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.

Molecular genetics and metabolism
|September 13, 2024
PubMed
概括

巴西患者的糖尿病 (MSUD) 分子诊断是使用基因组和大规模并行测序来实现的. 这种具有成本效益的方法确定了25种致病变体,其中包括9种新型变体,有助于了解MSUD的遗传基础.

关键词:
这就是BCKDHA.BCKDHBBCKDHBBCKDHBBCKDHBBCKDHBBCKDHBBCKDHBBCKDHBBCKDHBBCKDHBBCKDHBBCKDHBBCKDHB这就是为什么DBT DBT DBT糖尿病 糖 尿病大规模的并行测序.分子诊断是一种分子诊断.

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