Last Updated: 09/26/2026
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Found 20 publications
Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome.
Journal: The Journal of clinical investigation
Published: May 15, 2026
Nephrocalcinosis and kidney function in children and adults with X-linked hypophosphatemia: baseline results from a large longitudinal study.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: January 17, 2024
Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for ultra-rare inherited bleeding disorders.
Journal: Expert review of hematology
Published: March 15, 2023
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.
Journal: Molecular genetics and metabolism
Published: January 20, 2022
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy.
Journal: Journal of neuromuscular diseases
Published: January 18, 2021
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 04, 2020
Clinical trial data available for UX001, aceneuramic acid extended-release.
Journal: Journal of the neurological sciences
Published: January 31, 2020
Phase I study of samalizumab in chronic lymphocytic leukemia and multiple myeloma: blockade of the immune checkpoint CD200.
Journal: Journal for immunotherapy of cancer
Published: May 20, 2019
Eculizumab in paroxysmal nocturnal haemoglobinuria and atypical haemolytic uraemic syndrome: 10-year pharmacovigilance analysis.
Journal: British journal of haematology
Published: October 09, 2018
Clinical benefit of eculizumab in patients with no transfusion history in the International Paroxysmal Nocturnal Haemoglobinuria Registry.
Journal: Internal medicine journal
Published: November 11, 2016
Assessment of human antihuman antibodies to eculizumab after long-term treatment in patients with paroxysmal nocturnal hemoglobinuria.
Journal: American journal of hematology
Published: December 11, 2015
Terminal Complement Inhibitor Eculizumab in Adult Patients With Atypical Hemolytic Uremic Syndrome: A Single-Arm, Open-Label Trial.
Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation
Published: July 14, 2015
Last Updated: 09/26/2026