Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant-Reference-Cited by-同舟云学术

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

Published:2017-11 Issue:3 Volume:122 Page:99-107
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Rairikar Mugdha V.,Case Laura E.,Bailey Lauren A.,Kazi Zoheb B.,Desai Ankit K.,Berrier Kathryn L.,Coats Julie,Gandy Rachel^ORCID,Quinones Rebecca^ORCID,Kishnani Priya S.

Funder

Genzyme Corporation

Lysosomal Disease Network

NIH Rare Diseases Clinical Research Network

NCATS

National Institute of Neurological Disorders and Stroke

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Elsevier BV

Subject

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

Reference47 articles.

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3. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;Kishnani;J. Pediatr.,2006

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

5. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients;Muller-Felber;Neuromuscul. Disord.,2007

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1. Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease;Nature Communications;2024-09-08

2. Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study;International Journal of Molecular Sciences;2024-08-23

3. Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial;Molecular Genetics and Metabolism;2024-02

4. An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion;Frontiers in Pediatrics;2024-01-08

5. Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion;International Journal of Molecular Sciences;2023-11-03