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Journal of Inherited Metabolic Disease|February 9, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Zi-Fan Yu, Roberto Giugliani, et al.
Biorxiv : the Preprint Server for Biology|January 30, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James Mj Lawlor, Susan M Hiatt, et al.
Experimental Physiology|February 15, 2021
Improving the prognosis of renal patients: The effects of blood flow-restricted resistance training on redox balance and cardiac autonomic functionLysleine Alves de Deus, Rodrigo Vanerson Passos Neves, Hugo de Luca Corrêa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infantsSimon A Jones, Vassili Valayannopoulos, Eugene Schneider, et al.
Molecular Genetics and Metabolism|June 23, 2015
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatmentElsa G Shapiro, Igor Nestrasil, Kyle Rudser, et al.
BMC Psychiatry|September 24, 2022
Recovery Colleges Characterisation and Testing in England (RECOLLECT): rationale and protocolDaniel Hayes, Claire Henderson, Ioannis Bakolis, et al.
The Journal of Pediatrics|March 6, 2009
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled studyFriedrich K Trefz, Barbara K Burton, Nicola Longo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
Cell Reports|June 8, 2025
Cholesterol metabolism regulated by CAMKK2-CREB signaling promotes castration-resistant prostate cancerChenchu Lin, Thomas L Pulliam, Jenny J Han, et al.
Molecular Genetics and Metabolism|November 25, 2015
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance inductionPriya S Kishnani, Patricia I Dickson, Laurie Muldowney, et al.
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