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European Heart Journal. Cardiovascular Imaging|June 10, 2020
The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storageJoão B Augusto, Nicolas Johner, Dipen Shah, et al.
The New England Journal of Medicine|January 31, 2024
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type CTatiana Bremova-Ertl, Uma Ramaswami, Marion Brands, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2006
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)Joseph Muenzer, James E Wraith, Michael Beck, et al.
Orphanet Journal of Rare Diseases|April 8, 2018
Consensus clinical management guidelines for Niemann-Pick disease type CTarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, et al.
BMJ Open|October 11, 2020
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiativeDerralynn A Hughes, Patricio Aguiar, Patrick B Deegan, et al.
Nature Reviews. Cardiology|June 15, 2023
International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemiaGerald F Watts, Samuel S Gidding, Robert A Hegele, et al.
American Journal of Preventive Cardiology|April 29, 2025
Implementation strategies for improving the care of familial hypercholesterolaemia from the International Atherosclerosis Society: next steps in implementation science and practiceMitchell N Sarkies, Gerald F Watts, Samuel S Gidding, et al.
Internal Medicine Journal|November 11, 2018
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiativeAtul Mehta, David J Kuter, Sam S Salek, et al.
European Heart Journal|May 25, 2026
Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statementAlbert Wiegman, Mafalda Bourbon, Tomas Freiberger, et al.
JIMD Reports|February 23, 2013
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortageGabor E Linthorst, Alessandro P Burlina, Franco Cecchi, et al.
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