Our Publications

Sharing our discoveries to expand the public knowledgebase

Transparent communications are critical to the evolution of scientific understanding and informed decision making. 澳门正规博彩十大排行平台’s publications have been recognized by many of the foremost journals in biomedicine. Recent publications are listed in reverse chronological order, below.

Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober, Lynda E. Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Yumiko Kotani, Natsuo Yasui, Klane K. White, Howard M. Saal, Antonio Leiva-Gea, Felipe Luna-González, Hiroshi Mochizuki, Donald Basel, Dania M. Porco, Kala Jayaram, Elena Fisheleva, Alice Huntsman-Labed & Jonathan R. S. Day. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Nature, 23, 2443–2447 (2021)
Kim A, Grover A, Hammon K, de Hart G, Slasor P, Cherukuri A, Ajayi T, Jacoby D, Schulz A, Specchio N, de Los Reyes E, Gissen P, Henshaw J. Clinical pharmacokinetics and pharmacodynamics of cerliponase alfa, enzyme replacement therapy for CLN2 disease by intracerebroventricular administration. Clin Transl Sci. 2020;14(2):635-644.
Long B, Veron P, Kuranda K, Hardet R, Mitchell N, Hayes GM, Wong W, Lau K, Li m, Hock B, Zoog SJ, Vetterman C, Mingozzi F, Schweighardt B. Early Phase Clinical Immunogenicity of Valoctocogene roxaparvovec, an AAV5-Mediated Gene Therapy for Hemophilia A. Mol Ther Methods Clin Dev. 2021;29(2):597-610.
Rosen S, Tiefenbacher S, Robinson M, Huang M, Srimani J, Mackenzie D, Christianson T, Pasi J, Rangarajan S, Symington E, Giermasz A, Pierce G, Kim B, Zoog SJ, Vettermann C. Activity of Transgene-Produced B-Domain Deleted Factor VIII in Human Plasma Following AAV5 Gene Therapy. Blood. 2020; 136(22):2524-2534.
Egeland M, Tarczyluk-Wells MM, Asmar M, Adintori E, Lawrence R, Snella E, Jens J, Crawford BE, Wait JCM, McCullagh E, Pinkstaff J, Cooper JD, Ellinwood NM. Central Nervous System pathology in the MPS IIIB dog model reveals progressive changes in brain regions clinically relevant to symptomology. Sci Rep. 2020;10(1):20365.
Foreman PK, van Kessel F, van Hoorn R, van den Bosch J, Shediac R, Landis S. Birth prevalence of achondroplasia: A systematic literature review and meta-analysis. Am J Med Genet A. 2020;182(10);2297-2316.
Reyes E, Lehwald L, Augustine EF, Berry-Kravis E, Butler K, Cormier N, Demarest S, Lu S, Madden J, Olaya J, See S, Vierhile A, Wheless J, Yang A, Cohen-Pfeffer J, Chu D, Leal-Pardinas F, Wang RY. Intracerebroventricular cerliponase alfa for CLN2 disease: Clinical practice considerations from US clinics. Pediatr Neurol. 2020;110:64.
Whiting R, Robinson G, Ota-Kuroki J, Lim S, Castaner L, Jensen C, Kowal J, Nguyen A, Corado C, O’Neill C, Katz M. Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res. 2020;98:108135.
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino C, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober M, Polgreen L, Ginebreda I, Mohnike K, Charrow J, Hoernschmeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White K, Saal H, Leiva A, Mochizuki H, Basel D, Porco D, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J. Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet. 2020;396(10252):684-692.
Burton B, Longo N, Vockley J, Grange D, Harding C, Decker C, Li M, Lau K, Rosen O, Larimore K, Thomas J. Pegvaliase for the Treatment of Phenylketonuria: Results of the Phase 2 Dose-Finding Studies with Long-term Follow-up. Mol Genet Metab. 2020;130(4):239-246.
Whiting R, Pearce J, Vansteenkiste D, Bibi K, Lim S, Robinson G, Castaner L, Sinclair J, Chandra S, Nguyen A, O’Neill CA, Katz M. Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis. Exp Eye Res. 2020;197:108130.
Johnson A, Mandelstam S, Andrews I, Boysen K, Yaplito-Lee J, Fietz M, Lakshmi Nagarajan L, Rodriguez-Casero V, Ryan M, Smith N, Scheffer I, Ellaway C. Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease): An Australian case series. J Paediatr Child Health. 2020; 56(8):1210-1218.
Fong S, Handyside H, Sihn CR, Liu S, Zhang L, Xie L, Murphy R, Galicia N, Yates B, Minto WC, Vitelli C, Harmon D, Ru Y, Yu GK, Escher C, Vowinckel J, Woloszynek J, Akeefe H, Mahimkar R, Bullens S, Buntin S. Induction of Endoplasmic Reticulum Stress by an AAV5- B-Domain-Deleted Factor VIII Construct is Dependent on the Strength of the Hepatic-Specific Promoter. Mol Ther Methods Clin Dev. 2020;18:620-630.
Lawrence R, Prill H, Adintori EG, Wang RY, Burton BK, Pasquali M, Crawford BE. Characterization of Disease-specific Chondroitin Sulfate Non-reducing End Accumulation in Mucopolysaccharidosis IVA. J Glycobiol. 2020;30(7):433-445.
Schulz A, Jain M, Butt T, Ballinger R, Eliasson L, Macey J, Peasgood T, Olaye A, Twezakis-Snyder I, Dyck I, West A. The challenges of living with and caring for a child or children affected by CLN2 disease: in-depth family surveys in UK and Germany. J Inborn Errors Metab Screening. SciELO, 2020; 8:e20190013.
Beazer J, Breck J, Eggerding C, Gordon P, Hacker S, Thompson A. Strategies to Engage Lost To Follow-Up (LTFU) Patients with Phenylketonuria (PKU): Best Practice Recommendations. Mol Genet Metab Rep. 2020;23:100571.
Vera M, Le S, Victoroff A, Passage M, Brown J, Crawford B, Polgreen L, Chen A, Dickson P. Evaluation of Non-Reducing End Pathologic Glycosaminoglycan Detection Method for Monitoring Therapeutic Response to Enzyme Replacement Therapy in Human Mucopolysaccharidosis I. Mol Genet Metab. 2020;129(2):91-97.
Bhattacharya K, Balasubramaniam S, Murray K, Peters H, Ketteridge D, Inwood A, Lee J, Ellaway C, Owens P, Wong M, Ly C, McGill J. Safety and efficacy of elosulfase alfa in Australian patients with Morquio A syndrome: A phase 3b study. J Inborn Errors Metab Screening. SciELO, 2020;8:e20200001.
Grover A, Crippen-Harmon D, Nave L, Vincelette J, Wait J, Melton A, Lawrence R, Brown J, Webster K, Yip B, Baridon B, Vitelli C, Rigney S, Christianson T, Tiger P, Lo M, Holtzinger J, Shaywitz A, Crawford B, Fitzpatrick P, LeBowitz J, Bullens S, Aoyagi-Scharber M, O’Neill C, Bunting S, Pinkstaff J, Bagri A. Translational studies of intravenous and intracerebroventricular routes of administration for CNS cellular biodistribution for BMN 250, an enzyme replacement therapy (ERT) for the treatment of Sanfilippo type B. Drug Deliv Transl Res. 2020;10(2):425-439.
Gorovits B, Fiscella M, Havert M, Koren E, Long B, Milton M, Purushothama S. Recommendations for the Development of Anti-Viral Vector Antibody Assays. AAPS J. 2020; 22(2):24.
K. John Pasi, M.B., Ch.B., Ph.D., Savita Rangarajan, M.B., B.S., Nina Mitchell, M.B., B.Chir., Will Lester, M.B., Ch.B., Ph.D., Emily Symington, M.B., B.S., Bella Madan, M.D., Michael Laffan, D.M., Chris B. Russell, Ph.D., Mingjin Li, M.Sc., Glenn F. Pierce, M.D., Ph.D., and Wing Y. Wong, M.D. Multiyear Follow-up of AAV5-hFVIII-SQ Gene Therapy for Hemophilia A. N Engl J Med. 2020;382:29-40.
Ru Y, Corado C, Soon RK Jr., Melton AC, Harris A, Yu KG, Pryer N, Sinclair JR, Katz ML, Ajayi T, Jacoby D, Russell CB, Chandriani S. Neurofilament light is a disease-associated biomarker in human and canine CLN2 disease that is responsive to enzyme replacement therapy. Ann Clin Translational Neurol. 2019; 6(12)2437-2447.

Sharing our discoveries to expand the public knowledgebase

Our Products

Our Pipeline