Pompe Disease Content Hub Videos on The Doctor's Channel

Researchers from Université de Sherbrooke, Canada, report that reflex enzymatic testing may help confirm or rule out a #diagnosis of #Pompe disease.

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Early ERT May Improve Hearing Outcomes Among Patients With Infantile-Onset Pompe Disease

Pompe Disease Content Hub

Researchers from National Yang Ming Chiao Tung University, Taipei, Taiwan, report that #ERT decreases #hearingimpairment in #Pompe disease.

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The Identification of Novel GAA Mutations in Pompe Disease

Pompe Disease Content Hub

Paula Hernández-Arévalo, of Hospital Universitario Virgen del Rocío, Seville, Spain, and colleagues identified 4 new pathogenic variants of #Pompe disease.

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New Findings Suggest Pompe Disease Is More Common Than Previously Thought

Pompe Disease Content Hub

Kyung Sun Park, of Kyung Hee University Medical Center, discusses updated estimates of #Pompe disease, demonstrating increased #incidence.

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The Use of MRI in the Diagnosis and Follow-Up of Pompe Disease

Pompe Disease Content Hub

Jordi Díaz-Manera, MD, PhD, of @jwmdrc, discusses the use of #muscle #MRI in #PompeDisease.

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Promising New Enzyme Replacement Therapy for Late-Onset Pompe Disease

Pompe Disease Content Hub

Priya Kishnani, MD, from @DukeMedSchool, discusses the use of #avalglucosidase alfa in late-onset #PompeDisease.

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Pain Management in Pompe Disease

Pompe Disease Content Hub

Jonathan Rajan, MBChB, from the Salford Royal Foundation Trust, discusses #pain in patients with #PompeDisease.

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A Tool for Personalized Immunogenicity Risk Assessment

Pompe Disease Content Hub

Anne S. De Groot, MD, of EpiVax, Inc., and the Center for Vaccines and Immunology, University of Georgia, and colleagues present a study designed to develop a #tool…