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JAMA|February 18, 2015
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trialPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.Blood|September 9, 2011
Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher diseaseAri Zimran, Einat Brill-Almon, Raul Chertkoff, et al.Journal of the American Heart Association|February 6, 2014
Risk of death in heart disease is associated with elevated urinary globotriaosylceramideRaphael Schiffmann, Sabrina Forni, Caren Swift, et al.Chest|March 12, 2023
Lung Imaging in COPD Part 1: Clinical UsefulnessSuhail Raoof, Manav Shah, Barry Make, et al.Communications Biology|May 25, 2023
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiencyMurtaza S Nagree, Jitka Rybova, Annie Kleynerman, et al.Molecular Genetics and Metabolism|April 5, 2026
Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challengesJoseph Muenzer, Mark Dant, Patricia I Dickson, et al.Kidney International Reports|February 24, 2025
Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell PathologyAndrea F Wise, Igaa Ari Krisnadevi, Shoni Bruell, et al.American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|February 16, 2026
Allograft and Recipient Tissue Injury during Cardiac Allograft Rejection: Evidence from Cell-free DNATemesgen E Andargie, Naoko Tsuji, Naoki Hayase, et al.Nutrition & Metabolism|July 12, 2018
Maternal overnutrition by hypercaloric diets programs hypothalamic mitochondrial fusion and metabolic dysfunction in rat male offspringRobbi E Cardenas-Perez, Lizeth Fuentes-Mera, Ana Laura de la Garza, et al.Biology Open|September 8, 2025
Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidosesEmily N Barker, Mehrafarin Ashiri, Jennifer T Saville, et al.Pageof 24