Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders

Elena Urizar(Marqués de Valdecilla University Hospital), Karolina M. Stępień(Salford Royal NHS Foundation Trust), Udara D. Senarathne(University of Sri Jayewardenepura), Siying Lin(Moorfields Eye Hospital NHS Foundation Trust), Chaitanya Gadepalli(Salford Royal NHS Foundation Trust), Simon A. Jones(Cardiff University), Graeme C. Black(University of Manchester), Andrew C. Browning(Royal Victoria Infirmary), Éamon P McCarron(Salford Royal NHS Foundation Trust), Jorge Menendez Lorenzo(Salford Royal Hospital), Andrew Bentley(Manchester Academic Health Science Centre), Peter Woolfson(Salford Royal NHS Foundation Trust), Christos Iosifidis(Manchester Royal Eye Hospital), John Bassett(Salford Royal Hospital), James A. Cooper(St Mary's Hospital), Heather J. Church(St Mary's Hospital), Maria Elena Farrugia(Queen Elizabeth University Hospital), Neluwa-Liyanage R. Indika(University of Sri Jayewardenepura)
Genes
July 30, 2025
Cited by 6


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