Minnesota Department of Health long-term follow-up of newborn screening conditions: New applications for Pompe disease and MPS I

Holmes Elise; Bentler Kristi; Gaviglio Amy; Steyermark Anthony; Ojodu Jelili

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Minnesota Department of Health long-term follow-up of newborn screening conditions: New applications for Pompe disease and MPS I

机译：明尼苏达卫生部的新生儿筛查条件的长期随访：Pompe病和MPS的新应用

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《Molecular genetics and metabolism》 |2018年第2期|共1页
作者
Holmes Elise; Bentler Kristi; Gaviglio Amy; Steyermark Anthony; Ojodu Jelili;
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作者单位

Minnesota Dept Hlth St Paul MN USA;

Minnesota Dept Hlth St Paul MN USA;

Minnesota Dept Hlth St Paul MN USA;

Minnesota Dept Hlth St Paul MN USA;

Assoc Publ Hlth Labs Silver Spring MD USA;

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原文格式 PDF
正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. Minnesota Department of Health long-term follow-up of newborn screening conditions: New applications for Pompe disease and MPS I [J] . Holmes Elise, Bentler Kristi, Gaviglio Amy, Molecular genetics and metabolism . 2018,第2期

机译：明尼苏达卫生部的新生儿筛查条件的长期随访：Pompe病和MPS的新应用
2. Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases [J] . Zdenek Spacil, Susan Elliott, Steven L. Reeber, Analytical chemistry . 2011,第12期

机译：快速液相色谱法比较干血斑中溶酶体酶活性的三重串联质谱分析：在庞培，法布里和霍勒病的新生儿筛查中的应用
3. Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe, Fabry, and Hurler Diseases [J] . Zdenek Spacil, Susan Elliott, Steven L. Reeber, Analytical chemistry . 2011,第12期

机译：快速液相色谱法比较干血斑中溶酶体酶活性的三重串联质谱分析：在庞培，法布里和霍勒病的新生儿筛查中的应用
4. Computerized tracking for newborn screening and follow-up: a review [C] . Meaney, F.J. . 1988

机译：新生儿筛查和随访的计算机跟踪：综述
5. The role of the genetic counselor in newborn screening follow-up services: Recommendations regarding genetic counselor roles and education in anticipation of increased population-based screening. [D] . Giordano, Jessica L. 2008

机译：遗传咨询师在新生儿筛查随访服务中的作用：关于遗传咨询师在预期以人群为基础的筛查方面的作用和教育的建议。
6. Comparative Triplex Tandem Mass Spectrometry Assays of Lysosomal Enzyme Activities in Dried Blood Spots Using Fast Liquid Chromatography: Application to Newborn Screening of Pompe Fabry and Hurler Diseases [O] . Zdeněk Spáčil, Susan Elliott, Steven L. Reeber, -1

机译：比较三重串联质谱法溶酶体酶活动中的干血斑使用快速液相色谱测定：应用新生儿筛查庞贝氏症法布里和胡尔勒病
7. Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children [O] . Alex R Kemper, Coleen A Boyle, Javier Aceves, 2008

机译：新生儿筛查诊断后的长期随访：美国卫生和人类服务咨询委员会关于新生儿和儿童遗传性疾病和遗传疾病咨询委员会的声明
8. Sickle Cell Disease: Screening, Diagnosis, Management, and Counseling in Newborns and Infants. Clinical Practice Guideline Number 6; Sickle Cell Disease: Comprehensive Screening and Management in Newborns and Infants. Quick Reference Guide for Clinicians Number 6; Sickle Cell Disease in Newborns and Infants. A Guide for Parents [R] . 1993

机译：镰状细胞病：新生儿和婴儿的筛查，诊断，管理和咨询。临床实践指南第6号;镰状细胞病：新生儿和婴儿的综合筛查和管理。第6号临床医生快速参考指南;新生儿和婴儿的镰状细胞病。家长指南

Minnesota Department of Health long-term follow-up of newborn screening conditions: New applications for Pompe disease and MPS I

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