Results 1 to 10 of about 1,451,354 (224)

Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A. [PDF]

ACS Med Chem Lett, 2020
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to lysosomal accumulation of keratan sulfate (KS) and chondroitin-6-sulfate. In this study, we identified and characterized bromocriptine (BC) as a novel PC for MPS IVA. BC
Olarte-Avellaneda S, Cepeda Del Castillo J, Rojas-Rodriguez AF, Sánchez O, Rodríguez-López A, Suárez García DA, Pulido LMS, Alméciga-Díaz CJ.   +7 more
europepmc   +5 more sources

Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings [PDF]

Diagnostics, 2020
Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of
Sharon Barak, Yair Anikster, Ifat Sarouk, Eve Stern, Etzyona Eisenstein, Tamar Yissar, Nir Sherr-Lurie, Annick Raas-Rothschild, Dafna Guttman   +8 more
doaj   +3 more sources

Mucopolysaccharidosis type IV: report of 5 cases of Morquio Syndrome

Radiology Case Reports, 2022
Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women.
Jorge Alejandro Cadena Arteaga, MD. MSP., Fabricio Andres Lasso Andrade, MD. MSP., Denny Marcela Achicanoy Puchana, MD, Diana Fernanda Achicanoy Puchana, MD., Gina Natalia Caicedo Morillo, MD. MSP., Paola Andrea Medina Bravo, MD, William Fernando Juez Neira, MD, Cristian Ricardo Vanegas Bastidas, MD, Diana Carolina Montoya Ríos, MD, Karen Julieth Vasquez Correa, MD, Laura Catalina Suárez Cuéllar, MD, Lady Johana Osorio Segura, MD   +11 more
doaj   +4 more sources

Biomarkers in patients with mucopolysaccharidosis type II and IV

Molecular Genetics and Metabolism Reports, 2019
Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers.
Honoka Fujitsuka, Kazuki Sawamoto, Hira Peracha, Robert W. Mason, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu   +11 more
doaj   +4 more sources

Safety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study [PDF]

Orphanet Journal of Rare Diseases
Background Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder caused by deficiency of the enzyme α-L-iduronidase. Laronidase (Aldurazyme®) stands as the sole FDA-approved enzyme replacement therapy (ERT) for MPS I to date. In June 2020,
Yan Liang, Yan-Ling Yang, Chao-Chun Zou, Li Liu, Ying Jiao, Yu Wang, Xin Liu, Xiao-Ping Luo   +7 more
doaj   +3 more sources

Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA [PDF]

Current Issues in Molecular Biology
Mucopolysaccharidosis (MPS IVA) is caused by pathogenic variations in the GALNS gene, leading to the accumulation of glycosaminoglycans in tissues and causing progressive skeletal lesions.
Betul Celik, Sampurna Saikia, Shaukat Khan, Krishna Sai Musini, Shunji Tomatsu   +4 more
doaj   +2 more sources

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +6 more sources

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. [PDF]

, 2020
BackgroundMucopolysaccharidosis I (MPS IH) is a lysosomal storage disease treated with hematopoietic cell transplantation (HCT) because it stabilizes cognitive deterioration, but is insufficient to alleviate all somatic manifestations.
A Ghosh, AR Pal, ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories., B Link, Bradley S. Miller, C Peters, C Peters, Chester B. Whitley, DA Stevenson, E Shapiro, E Yasuda, E. Oussoren, EA Braunlin, EA Braunlin, ED Kakkis, EJ Langereis, Elise Northrop, Elizabeth Braunlin, Ellen B. Fung, Ellen Fung, G Malm, I Visigalli, Jakub Tolar, JB Eisengart, JE Wraith, JJ Boelens, JR Hobbs, JS Weisstein, Julie B Eisengart, Julie B. Eisengart, KJ Bjoraker, Kyle Rudser, L Lopez, LA Clarke, LE Polgreen, LE Polgreen, LE Polgreen, Lynda E. Polgreen, M Aldenhoven, M Sifuentes, MA Saif, MD Poe, NE Taylor, NJ Rodgers, Paul J. Orchard, RL Washington, S Laraway, Simon A. Jones, SS Grewal, Troy C. Lund, Weston P. Miller, Y Xue   +51 more
core   +1 more source

Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV)

Diagnostics, 2021
Morquio syndrome (mucopolysaccharidosis IV/MPS IV) is a genetic disorder leading to skeletal abnormalities and gait deviations. Research on the gait patterns and lower extremity physical characteristics associated with skeletal dysplasia in children with
Jose J. Salazar-Torres, Chris Church, Thomas Shields, M. Wade Shrader, Lydia Fisher, William G. Mackenzie, W. G. Stuart Mackenzie   +6 more
doaj   +1 more source

A case study of three patients with mucopolysaccharidoses in Hue Central Hospital

SAGE Open Medical Case Reports, 2020
Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various ...
Tran Kiem Hao, Nguyen Thi Diem Chi, Nguyen Thi Hong Duc, Nguyen Thi Kim Hoa   +3 more
doaj   +1 more source