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在巴西,对新生儿进行针对六种 lysosomal 疾病的查进行了试点研究

Francyne Kubaski1, Ines Sousa2, Tatiana Amorim3

  • 1Greenwood Genetic Center, Biochemical Genetics Laboratory, Greenwood, USA; BioDiscovery Laboratory, HCPA, Porto Alegre, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Brazil; PPGBM, UFRGS, Porto Alegre, Brazil.

Molecular genetics and metabolism
|July 28, 2023
PubMed
概括

在巴西,新生儿查 lysosomal疾病 (LDs) 使用并列质谱检测发现了两个Fabry病例和五个潜在的Pompe病例. 这项试点研究证明了用于大规模新生儿查计划的可行协议.

关键词:
生物标志物 生物标志物酶分析是一种酶分析.lysosomal 储存疾病 lysosomal 储存疾病新生儿查 新生儿查协奏式质谱测量 质谱测量

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