当前位置：
X-MOL 学术
›
Genet. Med.
›
论文详情
Our official English website, www.x-mol.net, welcomes your
feedback! (Note: you will need to create a separate account there.)
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-Aug-10 , DOI: 10.1038/s41436-018-0129-y Melissa P Wasserstein 1 , Michele Caggana 2 , Sean M Bailey 3 , Robert J Desnick 4 , Lisa Edelmann 4 , Lissette Estrella 4 , Ian Holzman 4 , Nicole R Kelly 1 , Ruth Kornreich 4 , S Gabriel Kupchik 5 , Monica Martin 2 , Suhas M Nafday 1 , Randi Wasserman 6 , Amy Yang 4 , Chunli Yu 4 , Joseph J Orsini 2
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-Aug-10 , DOI: 10.1038/s41436-018-0129-y Melissa P Wasserstein 1 , Michele Caggana 2 , Sean M Bailey 3 , Robert J Desnick 4 , Lisa Edelmann 4 , Lissette Estrella 4 , Ian Holzman 4 , Nicole R Kelly 1 , Ruth Kornreich 4 , S Gabriel Kupchik 5 , Monica Martin 2 , Suhas M Nafday 1 , Randi Wasserman 6 , Amy Yang 4 , Chunli Yu 4 , Joseph J Orsini 2
Affiliation
We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann-Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSDs) for public health mandated screening.
中文翻译：
纽约溶酶体贮积病试点新生儿筛查计划：首批 65,000 名婴儿报告。
我们对 Pompe、Gaucher、Niemann-Pick A/B、Fabry 和 MPS 1 进行了同意的试点新生儿筛查 (NBS)，以评估这些溶酶体贮积症 (LSD) 对公共卫生强制筛查的适用性。
更新日期：2018-08-10
中文翻译：
纽约溶酶体贮积病试点新生儿筛查计划：首批 65,000 名婴儿报告。
我们对 Pompe、Gaucher、Niemann-Pick A/B、Fabry 和 MPS 1 进行了同意的试点新生儿筛查 (NBS)，以评估这些溶酶体贮积症 (LSD) 对公共卫生强制筛查的适用性。
京公网安备 11010802027423号