Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement-Reference-Cited by-同舟云学术

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement

Published:2017-07-01 Issue:Supplement_1 Volume:140 Page:S1-S3
ISSN:0031-4005
Container-title:Pediatrics
language:en
Short-container-title:

Author:

Kishnani Priya S.¹,Hwu Wuh-Liang²,

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, North Carolina; and

2. Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, and National Taiwan University College of Medicine, Taipei, Taiwan

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology and Child Health

Link

https://publications.aap.org/pediatrics/article-pdf/140/Supplement_1/S1/1142806/peds_20160280b.pdf

Reference15 articles.

1. Fifty years of newborn screening.;Wilcken;J Paediatr Child Health,2015

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

3. Pompe disease: early diagnosis and early treatment make a difference.;Chien;Pediatr Neonatol,2013

4. Newborn screening for lysosomal storage diseases.;Gelb;Clin Chem,2015

5. Newborn screening of lysosomal storage disorders.;Marsden;Clin Chem,2010

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1. Newborn screening for Pompe disease: Parental experiences and follow‐up care for a late‐onset diagnosis;Journal of Genetic Counseling;2022-08

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3. Antibiotic use among hospitalized children with lower respiratory tract infections: a multicenter, retrospective study from Punjab, Pakistan;Expert Review of Anti-infective Therapy;2021-07-12

4. Phenotypic implications of pathogenic variant types in Pompe disease;Journal of Human Genetics;2021-05-11

5. At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening;International Journal of Neonatal Screening;2020-12-21