Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis-Reference-Cited by-同舟云学术

Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis

Published:2023-05 Issue:1 Volume:139 Page:107565
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Sniderman King Lisa,Pan Yinghong,Nallamilli Babi Ramesh Reddy,Hegde Madhuri,Jagannathan Lakshmanan,Ramachander Vinish,Lucas Ann,Markind Jan,Colzani Raffaella

Publisher

Elsevier BV

Subject

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

Reference44 articles.

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4. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients;Hagemans;Brain,2005

5. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease;Bevilacqua;Orphanet J. Rare Dis.,2020

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1. Navigating Pompe Disease Assessment: A Comprehensive Scoping Review;2024-01-30

2. Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina;Genetics in Medicine;2024-01

3. Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies;Annals of Clinical and Translational Neurology;2023-09-08

4. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel;Molecular Genetics and Metabolism;2023-09