viernes, 2 de enero de 2026

Catching the Clues, Changing the Course of Lysosomal Storage Disorders Professor Yoshikatsu Eto, Dr. Nicole Muschol, Professor Patrício Aguiar, Dr. Robert Hopkin ++

FEATURED ARTICLE Catching the Clues, Changing the Course of Lysosomal Storage Disorders https://checkrare.com/catching-the-clues-changing-the-course-of-lysosomal-storage-disorders/ Yoshikatsu Eto, MD, PhD, Nicole Muschol, MD, Patrício Aguiar, MD, and Robert Hopkin, MD, explore the patient journey across the lysosomal storage disorder (LSD) continuum, focusing on persistent gaps in recognition, diagnosis, timely treatment initiation, and long-term care. Consider Rare: Suspecting and Diagnosing Fibrodysplasia Ossificans Progressiva (FOP) https://checkrare.com/suspecting-and-diagnosing-fibrodysplasia-ossificans-progressiva-fop/ Ellen Elias, MD, Professor, Pediatrics and Genetics, University of Colorado School of Medicine, and Christiaan Scott, MD, Professor of Medicine at the University of Ottawa, examine best practices to suspect and diagnose this ultra-rare condition.

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