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CheckRare

Clinical Diversity and Genetic Variation in Lysosomal Disorders

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Overview / Abstract:

Explain the principles of Pathogenic Processes in LSDs.
Explain that lysosomal composition, shape, contents, numbers differ between cell types
and have an effect on disease expression.
Review the evolving understanding of lysosomal autophagy functions.

Expiration

Jul 15, 2022

Discipline(s)

Nurse Practitioner , Nursing CNE, Physician CME, Physician Assistant CME

Format

Webinar / Webcast / Video

Credits / Hours

2.0

Accreditation

ACCME

Presenters / Authors / Faculty

Ozlem Goker-Alpan, MD
Founder and President
Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)

Gregory Grabowski, MD
Department of Pediatrics
University of Cincinnati College of Medicine
Division of Human Genetics

Soumeya Bekri, MD, PhD
Rouen University Hospital, France

Activity Specialities / Related Topics

Pediatrics, Neurology, Hematology, Genetics

Sponsors / Supporters / Grant Providers

Takeda, Cheisi, Ultragenyx Pharmaceutical, and Spark Therapeutics.

Keywords / Search Terms

CheckRare rare disease, lysosomal storage disease, gaucher, Fabry, MPS, Pompe, Ozlem Goker-Alpan, LDRTC, Gregory Grabowski, University of Cincinnati College of Medicine, Soumeya Bekri, Rouen University Hospital, Free CE CME

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