Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders

Elena Urizar(Salford Royal Hospital), Karolina M. Stępień(Medical University of Warsaw), Udara D. Senarathne(University of Sri Jayewardenepura), Siying Lin(Manchester Royal Eye Hospital), Chaitanya Gadepalli(Salford Royal NHS Foundation Trust), Simon A. Jones(Cardiff University), Graeme C. Black, Andrew C. Browning(Royal Victoria Infirmary), Éamon P McCarron(Northern General Hospital), 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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