المؤلفون: Alexion Pharmaceuticals, Inc.

المساهمون: C. Virginia O'Hayer, Clinical Professor & Director, Jefferson Center City Clinic for Behavioral Medicine

المصدر: Acceptance and Commitment Therapy with Neuromyelitis Optica Spectrum Disorder Patient and Caregiver Pilot Study

المؤلفون: Alexion Pharmaceuticals, Inc.

المساهمون: STEFANO GINANNI CORRADINI, Associate Professor

المصدر: Nonalcoholic Fatty Liver Disease: Crosstalk Between Genetic Predisposition and Epigenetic Lysosomal Acid Lipase Activity Reduction in Blood, Plasma and Platelets

المؤلفون: Alexion Pharmaceuticals, Inc.

المصدر: A Long-term Follow-up Study of Patients in LogicBio Clinical Trials for Methylmalonic Acidemia Characterized by MMUT Mutations Who Received hLB-001

المؤلفون: Alexion Pharmaceuticals, Inc.

المصدر: A Single Arm, Prospective, Multi-Center, Feasibility Study to Evaluate the Acceptability and Safety of MR-C-014 in Persons With Neuromyelitis Optica Spectrum Disorder (NMOSD) Who Have an Impaired Gait

المؤلفون: Alexion Pharmaceuticals, Inc.

المصدر: Paroxysmal Nocturnal Hemoglobinuria and Embolic Strokes of Undetermined Source (ESUS) and Transient Ischemic Attacks of Undetermined Source (ETUS)

المؤلفون: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Alexion Pharmaceuticals, Inc., Ara Parseghian Medical Research Foundation, BioMarin Pharmaceutical, Cure Sanfilippo Foundation, Danas Angels Research Trust (DART), Mirum Pharmaceuticals, Inc., Orchard Therapeutics, Passage Bio, Inc., Genzyme, a Sanofi Company, Sio Gene Therapies, Takeda Pharmaceuticals North America, Inc., The FireFly Fund, The Noah's Hope - Hope 4 Bridget Family Foundations, Travere Therapeutics, Inc., Ultragenyx Pharmaceutical Inc

المصدر: ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Kelly NR, Orsini JJ, Goldenberg AJ, Mulrooney NS, Boychuk NA, Clarke MJ, Paleologos K, Martin MM, McNeight H, Caggana M, Bailey SM, Eiland LR, Ganesh J, Kupchik G, Lumba R, Nafday S, Stroustrup A, Gelb MH, Wasserstein MP. ScreenPlus: A comprehensive, multi-disorder newborn screening program. Mol Genet Metab Rep. 2023 Dec 14;38:101037. doi: 10.1016/j.ymgmr.2023.101037. eCollection 2024 Mar.
Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, Watson M, Trotter T, Terry SF, Howell RR; Advisory Committee on Heritable Disorders in Newborns and Children. Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04.
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10.

المؤلفون: Alexion Pharmaceuticals, Inc.

المساهمون: Darin Okuda, Professor

المصدر: Clinical and Radiological Outcomes in People With Aquaporin-4 IgG Positive Neuromyelitis Optica Spectrum Disorder Treated With Ravulizumab

المؤلفون: Alexion Pharmaceuticals, Inc.

المساهمون: Sean Pittock, Prinicpal Investigator

المصدر: Pediatric Neuromyelitis Optica Spectrum Disorder (NMOSD) 1 Year Observational Study

المؤلفون: Alexion Pharmaceuticals, Inc.

المصدر: A Phase 1/2 Open-label Clinical Study of hLB-001 Gene Therapy in Pediatric Patients With Methylmalonic Acidemia Characterized by MMUT Mutations

المؤلفون: National Institute for Health Research, United Kingdom, Alexion Pharmaceuticals, Inc.

المصدر: Characterisation of Adult-Onset Hypophosphatasia

المؤلفون: Alexion Pharmaceuticals, Inc.

المساهمون: S Ananth Karumanchi, Professor of Medicine, Cedars-Sinai Medical Center

المصدر: Complement Regulation to Undo Systemic Harm in Preeclampsia: The CRUSH Study