Newborn screening for Pompe disease: An update, 2011-Reference-Cited by-同舟云学术

Newborn screening for Pompe disease: An update, 2011

Published:2012-01-17 Issue:1 Volume:160C Page:8-12
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Burton Barbara K.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Recombinant human acid α-glucosidase enzyme therapy for infants with glycogen storage disease type II: Results of a phase I/II clinical trial;Amalfitano;Genet Med,2001

2. Frequency of glycogen storage disease type II in the Netherlands: Implications for diagnosis and genetic counseling;Ausems;Eur J Hum Genet,1999

3. Glycogen storage disease type II: Enzymatic screening in dried blood spots on filter paper;Chamoles;Clin Chim Acta,2004

4. Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening program;Chien;Pediatrics,2008

5. Pompe disease in infants: Improving the prognosis by newborn screening and early treatment;Chien;Pediatrics,2009

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease;International Journal of Neonatal Screening;2022-11-15

2. GLYCOGEN STORAGE DISEASE TYPE II: A NARRATIVE LITERATURE REVIEW AND A CASE REPORT OF LATE-ONSET POMPE DISEASE IN A YOUNG WHITE CHILD;Wiadomości Lekarskie;2021

3. The First Year Experience of Newborn Screening for Pompe Disease in California;International Journal of Neonatal Screening;2020-02-07

4. AAV Gene Transfer with Tandem Promoter Design Prevents Anti-transgene Immunity and Provides Persistent Efficacy in Neonate Pompe Mice;Molecular Therapy - Methods & Clinical Development;2019-03

5. Case study: monitoring of Glc4 tetrasaccharide in the urine of Pompe patients, use of MALDI-TOF MS, and 1H NMR;Chemical Papers;2018-10-27