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Orphanet Journal of Rare Diseases|May 4, 2017
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registryJoseph Muenzer, Simon A Jones, Anna Tylki-Szymańska, et al.Human Gene Therapy|February 6, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trialRita Ferla, Pamela Claudiani, Marco Savarese, et al.Pediatric Pulmonology|March 28, 2013
Human amniotic fluid stem cells protect rat lungs exposed to moderate hyperoxiaDavide Grisafi, Michela Pozzobon, Arben Dedja, et al.Journal of Inherited Metabolic Disease|April 12, 2021
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.netAlessandro Rossi, Irene J Hoogeveen, Charlotte M A Lubout, et al.Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|October 18, 2012
Immunologic privilege in the central nervous system and the blood-brain barrierLeslie L Muldoon, Jorge I Alvarez, David J Begley, et al.The Journal of Pediatrics|May 2, 2006
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension studyPaul Harmatz, Roberto Giugliani, Ida Schwartz, et al.International Journal of Neonatal Screening|June 1, 2022
Towards Achieving Equity and Innovation in Newborn Screening across EuropeJaka Sikonja, Urh Groselj, Maurizio Scarpa, et al.European Journal of Neurology|April 9, 2026
The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of PhenylketonuriaSara Cannizzo, Vinciane Quoidbach, Bernadette Sheehan-Gilroy, et al.Orphanet Journal of Rare Diseases|May 10, 2023
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task ForceRima Nabbout, Galliano Zanello, Dixie Baker, et al.European Journal of Pediatrics|January 18, 2017
The ethical framework for performing research with rare inherited neurometabolic disease patientsViviana Giannuzzi, Hugo Devlieger, Lucia Margari, et al.Pageof 15