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Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease

  • Published:2021-09 Issue:1-2 Volume:134 Page:20-28
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Davids Laura,Sun Yuxian,Moore Reneé H.,Lisi Emily,Wittenauer Angela,Wilcox William R.,Ali Nadia

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference53 articles.

1. Newborn screening for lysosomal storage diseases: an ethical and policy analysis;Ross;J. Inherit. Metab. Dis.,2012

2. Principles and Practice of Screening for Disease;Wilson,1968

3. Newborn screening: toward a uniform screening panel and system;Genet. Med.,2006

4. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;Kishnani;J. Pediatr.,2006

5. The emerging phenotype of late-onset pompe disease: a systematic literature review;Chan;Mol. Genet. Metab.,2017

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