► 27:51 Muscle Function Assessment in Pompe Disease Pompe Disease Content Hub Jordi Diaz-Manera, MD, PhD, of @jwmdrc, discusses #muscle function and #QoL in #PompeDisease.
► 22:36 Current State of Knowledge Regarding Pompe Disease Pompe Disease Content Hub John Crowley, of @amicusrx1, discusses current knowledge regarding #PompeDisease.
► Patient Data Collected at Home Is Reliable for Assessing Progression in Pompe Disease Pompe Disease Content Hub Researchers from Duke University report that QMUS and hEIM are associated with muscle strength and function in #Pompe disease.
► Benefits of a Combined Approach for Diagnosing Pompe Disease Pompe Disease Content Hub Researchers from Université de Sherbrooke, Canada, report that reflex enzymatic testing may help confirm or rule out a #diagnosis of #Pompe disease.
► 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.
► 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.
► 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.
► 29:24 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.
► 1:26 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.
► 25:58 Pain Management in Pompe Disease Pompe Disease Content Hub Jonathan Rajan, MBChB, from the Salford Royal Foundation Trust, discusses #pain in patients with #PompeDisease.