Newborn screening for Pompe disease in Italy: Long-term results and future challenges-Reference-Cited by-同舟云学术

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

Published:2022-12 Issue: Volume:33 Page:100929
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Gragnaniello Vincenza,Pijnappel Pim W.W.M.,Burlina Alessandro P.,In 't Groen Stijn L.M.,Gueraldi Daniela,Cazzorla Chiara,Maines Evelina,Polo Giulia,Salviati Leonardo,Di Salvo Giovanni,Burlina Alberto B.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference105 articles.

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3. Broad variation in phenotypes for common GAA genotypes in Pompe disease;Niño;Hum. Mutat.,2021

4. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals;Wang;Genet. Med.,2011

5. Glycogen Storage Disease Type II (Pompe Disease) 2007 Aug 31 [updated 2013 May 9];Leslie,2022

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