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Laura E Case

Showing results (11-20 of 57) with videos related to

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Molecular Genetics and Metabolism|October 4, 2016
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutationStephanie L Austin, Andrew Chiou, Baodong Sun, et al.
Molecular Genetics and Metabolism|January 19, 2019
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variantMrudu Herbert, Laura E Case, Mugdha Rairikar, et al.
The American Journal of Case Reports|April 4, 2015
Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohortLisa D Hobson-Webb, Stephanie L Austin, Sneha Jain, et al.
Molecular Genetics and Metabolism|February 6, 2022
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screeningErin Huggins, Maggie Holland, Laura E Case, et al.
Molecular Genetics and Metabolism Reports|September 6, 2023
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screeningDavid G Jackson, Laura E Case, Erin Huggins, et al.
Molecular Genetics and Metabolism|September 19, 2015
Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detrainingHarrison N Jones, Kelly D Crisp, Randall R Robey, et al.
JIMD Reports|September 13, 2023
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapyWilliam B Hannah, Laura E Case, Edward C Smith, et al.
Molecular Genetics and Metabolism|October 22, 2008
Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case studyLaura E Case, Dwight D Koeberl, Sarah P Young, et al.
Molecular Genetics and Metabolism|March 29, 2011
Pompe disease: design, methodology, and early findings from the Pompe RegistryBarry J Byrne, Priya S Kishnani, Laura E Case, et al.
Muscle & Nerve|June 27, 2013
Generating color-coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disordersRamin Javan, Jeffrey J Horvath, Laura E Case, et al.
Pageof 6

Showing results (11-20 of 57) with videos related to

Sort By:
Pageof 6
Molecular Genetics and Metabolism|October 4, 2016
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutationStephanie L Austin, Andrew Chiou, Baodong Sun, et al.
Molecular Genetics and Metabolism|January 19, 2019
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variantMrudu Herbert, Laura E Case, Mugdha Rairikar, et al.
The American Journal of Case Reports|April 4, 2015
Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohortLisa D Hobson-Webb, Stephanie L Austin, Sneha Jain, et al.
Molecular Genetics and Metabolism|February 6, 2022
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screeningErin Huggins, Maggie Holland, Laura E Case, et al.
Molecular Genetics and Metabolism Reports|September 6, 2023
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screeningDavid G Jackson, Laura E Case, Erin Huggins, et al.
Molecular Genetics and Metabolism|September 19, 2015
Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detrainingHarrison N Jones, Kelly D Crisp, Randall R Robey, et al.
JIMD Reports|September 13, 2023
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapyWilliam B Hannah, Laura E Case, Edward C Smith, et al.
Molecular Genetics and Metabolism|October 22, 2008
Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case studyLaura E Case, Dwight D Koeberl, Sarah P Young, et al.
Molecular Genetics and Metabolism|March 29, 2011
Pompe disease: design, methodology, and early findings from the Pompe RegistryBarry J Byrne, Priya S Kishnani, Laura E Case, et al.
Muscle & Nerve|June 27, 2013
Generating color-coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disordersRamin Javan, Jeffrey J Horvath, Laura E Case, et al.
Pageof 6