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Orphanet Journal of Rare Diseases|June 18, 2015
Clinical and biochemical characterization of four patients with mutations in ECHS1Sacha Ferdinandusse, Marisa W Friederich, Alberto Burlina, et al.
Physiological Reports|November 1, 2016
Muscle oxygenation during dynamic plantar flexion exercise: combining BOLD MRI with traditional physiological measurementsMatthew D Muller, Zhijun Li, Christopher T Sica, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|September 5, 2022
Infectious Diseases Society of America Guidelines on the Treatment and Management of Patients With COVID-19 (September 2022)Adarsh Bhimraj, Rebecca L Morgan, Amy Hirsch Shumaker, et al.
Orphanet Journal of Rare Diseases|December 2, 2023
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trialMelissa P Wasserstein, Robin Lachmann, Carla Hollak, et al.
Molecular Genetics and Metabolism|July 22, 2019
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patientsGeorge A Diaz, Andreas Schulze, Nicola Longo, et al.
NPJ Genomic Medicine|September 24, 2021
Application of full-genome analysis to diagnose rare monogenic disordersJoseph T Shieh, Monica Penon-Portmann, Karen H Y Wong, et al.
Molecular Genetics and Metabolism|November 21, 2015
Glutamine and hyperammonemic crises in patients with urea cycle disordersB Lee, G A Diaz, W Rhead, et al.
World Journal of Surgery|March 2, 2026
How Is Colorectal Cancer Care Impacted by Global Crisis in Contrasting Healthcare Systems?-A Descriptive Study From Scotland and Switzerland During the COVID-19 PandemicB Wiesler, M Worni, P Studer, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|September 29, 2022
Transmission of Carbapenem-Resistant Klebsiella pneumoniae in US HospitalsCourtney L Luterbach, Liang Chen, Lauren Komarow, et al.
Open Forum Infectious Diseases|November 30, 2018
Ceftolozane-Tazobactam for the Treatment of Multidrug-Resistant Pseudomonas aeruginosa Infections: A Multicenter StudyJason C Gallagher, Michael J Satlin, Abdulrahman Elabor, et al.
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