Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

Autor: Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

Abstract Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS)

Externí odkaz: https://doaj.org/article/035cbead2c0241dba2d01dd40974329c

P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program

Autor: Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100218- (2023)

Externí odkaz: https://doaj.org/article/51f01bfed75f42b5b1f964c5d5864064

Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening

Autor: Tania Vasquez-Loarte, John D. Thompson, J. Lawrence Merritt

Publikováno v: International Journal of Neonatal Screening, Vol 6, Iss 4, p 77 (2020)

Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (

Externí odkaz: https://doaj.org/article/82f2cb247ddf4f76ac37e5a2de2f8bc4

Contributors

Autor: Steven H. Abman, Noorjahan Ali, Karel Allegaert, Jamie E. Anderson, Deidra A. Ansah, Bhawna Arya, David Askenazi, Susan W. Aucott, Stephen A. Back, Gerri R. Baer, H. Scott Baldwin, Jerasimos Ballas, Maneesh Batra, Cheryl Bayart, Gary A. Bellus, John T. Benjamin, Gerard T. Berry, Zeenia C. Billimoria, Gil Binenbaum, Matthew S. Blessing, Markus D. Boos, Brad Bosse, Maryse L. Bouchard, Heather A. Brandling-Bennett, Colleen Brown, Erin G. Brown, Katherine H. Campbell, Katie Carlberg, Brian S. Carter, Shilpi Chabra, Irene J. Chang, Edith Y. Cheng, Kai-wen Chiang, Robert D. Christensen, Terrence Chun, Ronald I. Clyman, Donna, Maria E. Cortezzo, C.M. Cotten, Sherry E. Courtney, Jonathan M. Davis, Alejandra G. de Alba Campomanes, Benjamin Dean, Ellen Dees, Sara B. De, Mauro, Scott C. Denne, Emöke Deschmann, Carolina Cecilia Di Blasi, Sara A. Di, Vall, Dan Doherty, David J. Durand, Nicolle Fernández Dyess, Eric C. Eichenwald, Kelsey B. Eitel, Rachel M. Engen, Kelly N. Evans, Diana L. Farmer, Emily Fay, Patricia Y. Fechner, Rachel Fleishman, Bobbi Fleiss, Joseph Flynn, Katherine T. Flynn-O’Brien, G. Kyle Fulton, Renata C. Gallagher, Estelle B. Gauda, W. Christopher Golden, Michelle M. Gontasz, Natasha González Estévez, Sidney M. Gospe, Pierre Gressens, Deepti Gupta, Sangeeta Hingorani, Ashley P. Hinson, Susan R. Hintz, W. Alan Hodson, Kara K. Hoppe, Alyssa Huang, Benjamin Huang, Kathy Huen, Katie A. Huff, Cristian Ionita, J. Craig Jackson, Jordan E. Jackson, Tom Jaksic, Patrick J. Javid, Julia Johnson, Cassandra D. Josephson, Emily S. Jungheim, Sandra E. Juul, Mohammad Nasser Kabbany, Heidi Karpen, Gregory Keefe, Jennifer C. Keene, Amaris M. Keiser, Roberta L. Keller, Thomas F. Kelly, Kate Khorsand, Grace Kim, John P. Kinsella, Allison S. Komorowski, Ildiko H. Koves, Joanne M. Lagatta, Satyan Lakshminrusimha, Christina Lam, John D. Lantos, Janessa B. Law, Su Yeon Lee, Ofer Levy, David B. Lewis, Philana Ling Lin, Scott A. Lorch, Tiffany L. Lucas, Akhil Maheshwari, Emin Maltepe, Erica Mandell, Winston M. Manimtim, Richard J. Martin, Dennis E. Mayock, Irene Mc, Aleer, Patrick McQuillen, Ann J. Melvin, Paul A. Merguerian, Lina Merjaneh, J. Lawrence Merritt, Valerie Mezger, Marian G. Michaels, Ulrike Mietzsch, Steven P. Miller, Thomas R. Moore, Karen F. Murray, Debika Nandi-Munshi, Niranjana Natarajan, Kathryn D. Ness, Josef Neu, Shahab Noori, Thomas Michael O’Shea, Julius T. Oatts, Nigel Paneth, Thomas A. Parker, Ravi Mangal Patel, Simran Patel, Anna A. Penn, Christian M. Pettker, Shabnam Peyvandi, Catherine Pihoker, Erin Plosa, Brenda Poindexter, Michael A. Posencheg, Mihai Puia-Dumitrescu, Vilmaris Quiñones Cardona, Samuel E. Rice-Townsend, Art Riddle, Elizabeth Robbins, Mark D. Rollins, Mark A. Rosen, Courtney K. Rowe, Inderneel Sahai, Sulagna C. Saitta, Parisa Salehi, Pablo J. Sanchez, Taylor Sawyer, Matthew A. Saxonhouse, Katherine M. Schroeder, David T. Selewski, T. Niroshi Senaratne, Istvan Seri, Emily E. Sharpe, Sarah E. Sheppard, Margarett Shnorhavorian, Robert Sidbury, La, Vone Simmons, Rebecca A. Simmons, Rachana Singh, Martha C. Sola-Visner, Lakshmi Srinivasan, Heidi J. Steflik, Robin H. Steinhorn, Caleb Stokes, Helen Stolp, Jennifer Sucre, Angela Sun, Dalal K. Taha, Jessica Tenney, Janet A. Thomas, George E. Tiller, Benjamin A. Torres, William E. Truog, Kirtikumar Upadhyay, Gregory C. Valentine, John N. van den Anker, Betty Vohr, Linda D. Wallen, Peter (Zhan Tao) Wang, Bradley A. Warady, Robert M. Ward, Jon F. Watchko, Elias Wehbi, Joern-Hendrik Weitkamp, David Werny, Klane K. White, K. Taylor Wild, Susan Wiley, Laurel Willig, George A. Woodward, Clyde J. Wright, Karyn Yonekawa, Elizabeth Yu, Elaine H. Zackai

Publikováno v: Avery's Diseases of the Newborn ISBN: 9780323828239

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ae2e380d47048c29830835b82b680e24
https://doi.org/10.1016/b978-0-323-82823-9.00101-x

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation

Autor: An N. Dang Do, Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam, Rhonda E. Schnur, Katrina Allis, Hana Hansikova, Nina Ondruskova, Shawn D. O'Connor, Amarilis Sanchez‐Valle, Arve Vollo, Raymond Y. Wang, Zoe Wolfenson, John Perreault, Daniel S. Ory, Hudson H. Freeze, J. Lawrence Merritt, Forbes D. Porter

Publikováno v: Journal of inherited metabolic disease, vol 46, iss 2
J Inherit Metab Dis

Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multi-systemic manifestations. Plasma bile acid and N-palmitoy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1fe60093ec40cb5561491e1ea6d777
https://escholarship.org/uc/item/39n7s551