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Laura E Case

Showing results (31-40 of 57) with videos related to

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Muscle & Nerve|August 27, 2014
Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe diseaseJeffrey J Horvath, Stephanie L Austin, Laura E Case, et al.
Molecular Genetics and Metabolism Reports|September 24, 2024
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulationAngie H Fares, Ankit K Desai, Laura E Case, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literatureAleena A Khan, Laura E Case, Mrudu Herbert, et al.
Molecular Genetics and Metabolism|April 5, 2026
Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screeningLaura E Case, Erin Huggins, Harrison N Jones, et al.
Molecular Genetics and Metabolism|February 11, 2017
The emerging phenotype of late-onset Pompe disease: A systematic literature reviewJustin Chan, Ankit K Desai, Zoheb B Kazi, et al.
Dysphagia|September 19, 2009
Oropharyngeal dysphagia in infants and children with infantile Pompe diseaseHarrison N Jones, Carolyn W Muller, Min Lin, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencingVandana Shashi, Slavé Petrovski, Kelly Schoch, et al.
Molecular Genetics and Metabolism|December 17, 2019
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe diseaseDwight D Koeberl, Laura E Case, Ankit Desai, et al.
Molecular Genetics and Metabolism|September 28, 2017
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variantMugdha V Rairikar, Laura E Case, Lauren A Bailey, et al.
Journal of Pediatric Rehabilitation Medicine|September 28, 2014
Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weaknessHarrison N Jones, Kelly D Crisp, Tronda Moss, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
Muscle & Nerve|August 27, 2014
Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe diseaseJeffrey J Horvath, Stephanie L Austin, Laura E Case, et al.
Molecular Genetics and Metabolism Reports|September 24, 2024
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulationAngie H Fares, Ankit K Desai, Laura E Case, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literatureAleena A Khan, Laura E Case, Mrudu Herbert, et al.
Molecular Genetics and Metabolism|April 5, 2026
Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screeningLaura E Case, Erin Huggins, Harrison N Jones, et al.
Molecular Genetics and Metabolism|February 11, 2017
The emerging phenotype of late-onset Pompe disease: A systematic literature reviewJustin Chan, Ankit K Desai, Zoheb B Kazi, et al.
Dysphagia|September 19, 2009
Oropharyngeal dysphagia in infants and children with infantile Pompe diseaseHarrison N Jones, Carolyn W Muller, Min Lin, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencingVandana Shashi, Slavé Petrovski, Kelly Schoch, et al.
Molecular Genetics and Metabolism|December 17, 2019
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe diseaseDwight D Koeberl, Laura E Case, Ankit Desai, et al.
Molecular Genetics and Metabolism|September 28, 2017
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variantMugdha V Rairikar, Laura E Case, Lauren A Bailey, et al.
Journal of Pediatric Rehabilitation Medicine|September 28, 2014
Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weaknessHarrison N Jones, Kelly D Crisp, Tronda Moss, et al.
Pageof 6