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Your search keyword '"Herbelin, Laura"' showing total 3 results
Start Over Author "Herbelin, Laura" Journal neurologic clinics
3 results on '"Herbelin, Laura"'

2. Pompe Disease

Author

Dasouki, Majed, primary, Jawdat, Omar, additional, Almadhoun, Osama, additional, Pasnoor, Mamatha, additional, McVey, April L., additional, Abuzinadah, Ahmad, additional, Herbelin, Laura, additional, Barohn, Richard J., additional, and Dimachkie, Mazen M., additional

Published
2014
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3. Pompe disease: literature review and case series.

Author

Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, Herbelin L, Barohn RJ, and Dimachkie MM

Subjects
Adolescent, Adult, Age of Onset, Child, Child, Preschool, Female, Glycogen Storage Disease Type II epidemiology, Humans, Infant, Newborn, Male, Mutation, Glycogen Storage Disease Type II diagnosis, Glycogen Storage Disease Type II genetics
Abstract

Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 patients with various forms of Pompe disease including 4 potentially pathogenic, novel GAA variants. We also review the recent the recent advances in the pathogenesis, diagnosis, and treatment of individuals with Pompe disease., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Published
2014
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