Recent Videos in Pediatrics

Nirmalya Roy Moulik, MD, PhD, of @TataMemorial, discusses #chronic #phase #CML in #pediatric patients.

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Multidisciplinary Approach to Managing Pompe Disease

Pompe Disease Content Hub

Priya Kishnani, MD, of @DukeMedSchool, discusses #multidisciplinary care for #PompeDisease.

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Activity in Children: Movement and Physical Literacy

Pediatrics

Monique Burton, MD, Grace Katt, LAT, ATC; Julia Olson, MEd, LAT, ATC, CSCS; and Carlos Orlina, LAT, ATC, CES, PES, of @seattlechildren, discuss physical literacy and activity in…

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Muscle Function Assessment in Pompe Disease

Pompe Disease Content Hub

Jordi Diaz-Manera, MD, PhD, of @jwmdrc, discusses #muscle function and #QoL in #PompeDisease.

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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.

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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.