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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.
Chest|March 12, 2023
Lung Imaging in COPD Part 2: Emerging ConceptsSuhail Raoof, Manav Shah, Sidney Braman, 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.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 25, 2018
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigationBénédicte Sudrié-Arnaud, Florent Marguet, Sophie Patrier, et al.
JAMA|May 16, 2016
Effect of Endobronchial Coils vs Usual Care on Exercise Tolerance in Patients With Severe Emphysema: The RENEW Randomized Clinical TrialFrank C Sciurba, Gerard J Criner, Charlie Strange, et al.
Thrombosis and Haemostasis|August 6, 2019
Lysophosphatidylcholine is a Major Component of Platelet Microvesicles Promoting Platelet Activation and Reporting Atherosclerotic Plaque InstabilityPhilipp Diehl, Frederik Nienaber, Maria T K Zaldivia, et al.
Heliyon|December 6, 2024
Plasma C24:0 ceramide impairs adipose tissue remodeling and promotes liver steatosis and glucose imbalance in offspring of ratsAlberto Camacho-Morales, Lilia G Noriega, Adriana Sánchez-García, et al.
Cell Stem Cell|June 6, 2024
Long-term engraftment and maturation of autologous iPSC-derived cardiomyocytes in two rhesus macaquesYongshun Lin, Noriko Sato, Sogun Hong, et al.
American Journal of Human Genetics|August 22, 2023
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individualsMenno Ter Huurne, Benjamin L Parker, Ning Qing Liu, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus documentMarieke Biegstraaten, Reynir Arngrímsson, Frederic Barbey, et al.
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