Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Adam J. Shaywitz"'
Autor:
Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 2 (2023)
Background Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacement therap
Externí odkaz:
https://doaj.org/article/3ded75f715844309990af3452c9afcb6
Autor:
Marsha Treadwell, Paul R. Harmatz, Barbara K. Burton, John J. Mitchell, Nicole Muschol, Simon A. Jones, Gregory M. Pastores, Heather A. Lau, Rebecca Sparkes, V. Reid Sutton, Bianca Meesen, Christine A. Haller, Adam J. Shaywitz, Jeffrey I. Gold
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Patients with mucopolysaccharidosis (MPS), and Morquio A syndrome (MPS IVA) in particular, often report substantial pain burden. MOR-008 was a randomized, double-blind, pilot study assessing the safety and efficacy, including impact on patient-report
Externí odkaz:
https://doaj.org/article/f3f8cac7a50a4075b5fda04b43dd2a02
Autor:
Beverly L. Davidson, Guangping Gao, Elizabeth Berry-Kravis, Allison M. Bradbury, Carsten Bönnemann, Joseph D. Buxbaum, Gavin R. Corcoran, Steven J. Gray, Heather Gray-Edwards, Robin J. Kleiman, Adam J. Shaywitz, Dan Wang, Huda Y. Zoghbi, Terence R. Flotte, Sitra Tauscher-Wisniewski, Cynthia J. Tifft, Mustafa Sahin
Publikováno v:
Molecular Therapy. 30:2416-2428
We are in an emerging era of gene-based therapeutics with significant promise for rare genetic disorders. The potential is particularly significant for genetic central nervous system disorders that have begun to achieve Food and Drug Administration a
Autor:
Nicole, Muschol, Anja, Koehn, Katharina, von Cossel, Ilyas, Okur, Fatih, Ezgu, Paul, Harmatz, Maria Jose, de Castro Lopez, Maria Luz, Couce, Shuan-Pei, Lin, Spyros, Batzios, Maureen, Cleary, Martha, Solano, Igor, Nestrasil, Brian D, Kaufman, Adam J, Shaywitz, Stephen M, Maricich, Bernice, Kuca, Joseph, Kovalchin, Eric H, Zanelli
Publikováno v:
The Journal of clinical investigation.
Sanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding for alfa-N-acetyl-glucosaminidase. Enzyme replacement therapy for n
Autor:
Ilyas Okur, Fatih Ezgu, Roberto Giugliani, Nicole Muschol, Anja Koehn, Hernan Amartino, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Heidi Peters, Joy Lee, Igor Nestrasil, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli
Publikováno v:
The Journal of pediatrics. 249
To characterize the longitudinal natural history of disease progression in pediatric subjects affected with mucopolysaccharidosis (MPS) IIIB.Sixty-five children with a confirmed diagnosis of MPS IIIB were enrolled into 1 of 2 natural history studies
Autor:
Adam J Shaywitz, Sophie Le Fur, Rafael D Escandon, Mimi S. Kim, Rachel J Eclov, Richard J. Auchus, Deborah P. Merke, Mitchell E. Geffner, Clayton W Beard, Pierre Bougnères, Kamal N Bharucha, Kyriakie Sarafoglou
Publikováno v:
Journal of the Endocrine Society. 5:A82-A82
The CYP21A2 gene, which encodes the 21-hydroxylase enzyme, plays a critical role in glucocorticoid (GC) and mineralocorticoid synthesis by the adrenal cortex. CYP21A2 pathogenic variants cause 21-hydroxylase deficiency (21OHD), the most common type o
Autor:
John P. Balser, Florian Eichler, Annette Bley, Ilena Oppermann, Heather Lau, Adam J. Shaywitz, Kathleen Kirby
Publikováno v:
Neuropediatrics.
Autor:
Maria Jose de Castro Lopez, Andrew Melton, Nicole Muschol, Fatih Süheyl Ezgü, Adam J. Shaywitz, Heather Cahan, Shuan-Pei Lin, Joy Lee, Stephen M. Maricich, Maureen Cleary, Heidi Peters, Anita Grover, Martha Solano Villarreal, María L. Couce, Paul Harmatz, İlyas Okur, Lynn Smith
Publikováno v:
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa21c6409ece9aedb2034f6ed771ed57
https://avesis.gazi.edu.tr/publication/details/7466caf5-db08-4bd4-98d9-a9fa7784574c/oai
https://avesis.gazi.edu.tr/publication/details/7466caf5-db08-4bd4-98d9-a9fa7784574c/oai
Autor:
Sridharan Gururangan, Irene Slavc, Jeanne Krauser, Manfred Westphal, Marcos Vinicius Calfat Maldaun, Christoph Schwering, Adam J. Shaywitz, Jessica L. Cohen-Pfeffer, Daniel A. Lim
Publikováno v:
Molecular genetics and metabolism. 124(3)
For decades, intracerebroventricular (ICV), or intraventricular, devices have been used in the treatment of a broad range of pediatric and adult central nervous system (CNS) disorders. Due to the limited permeability of the blood brain barrier, disea
Autor:
Rebecca Sparkes, Simon Jones, Adam J. Shaywitz, Marsha Treadwell, Mark A. Tarnopolsky, John J. Mitchell, Kenneth I. Berger, V. Reid Sutton, Gregory M. Pastores, Paul Harmatz, Heather Lau, Nicole Muschol, Barbara K. Burton, Fred Genter, Gregory D. Lewis
Publikováno v:
American Journal of Medical Genetics Part A. 167:2272-2281
The primary treatment outcomes of a phase 2, randomized, double-blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase alfa in patients with Morquio A syndrome are herewith presented. Patients aged ≥7 years a