Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening-Reference-Cited by-同舟云学术

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Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening

Published:2023-09 Issue:1-2 Volume:140 Page:107633
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Pillai Nishitha R.,Fabie Noelle Andrea V.,Kaye Tory V.,Rosendahl Sondra D.,Ahmed Alia,Hietala Amy D.,Jorgenson Alissa B.,Lanpher Brendan C.,Whitley Chester B.

Publisher

Elsevier BV

Subject

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

Reference31 articles.

1. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome;Howell;Genet. Med.,2006

2. Consensus treatment recommendations for late-onset Pompe disease;Cupler;Muscle Nerve,2012

3. 75. Clinical signs and symptoms of Pompe disease in 120 infantile-onset and 373 late-onset patients: a report from the Pompe registry;Kishnani;Mol. Genet. Metab.,2009

4. Outcome of later-onset Pompe disease identified through newborn screening;Lee;J. Pediatr.,2022

5. Early clinical phenotype of late onset Pompe disease: lessons learned from newborn screening;Huggins;Mol. Genet. Metab.,2022

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