Results 81 to 90 of about 1,596 (158)

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome

Drug Design, Development and Therapy, 2022
Chung-Lin Lee,1– 5 Chih-Kuang Chuang,6,7 Huei-Ching Chiu,1 Ru-Yi Tu,6 Yun-Ting Lo,5 Ya-Hui Chang,1,5 Shuan-Pei Lin,1,3,5,6,8 Hsiang-Yu Lin1,3– 6,9 1Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; 2Institute of Clinical Medicine ...
Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Lin SP, Lin HY   +7 more
doaj  

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal, Javier Cifuentes, Carlos Emilio Torres, Diego Suárez, Valentina Quezada, Saúl Camilo Gómez, Juan C. Cruz, Luis H. Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz   +9 more
doaj   +1 more source

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

JIMD Reports, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme, N‐acetylgalactosamine 6‐sulphatase (GALNS).
Sharon J. Chin, Jennifer T. Saville, Belinda K. McDermott, Andreas Zankl, Janice M. Fletcher, Maria Fuller   +5 more
doaj   +1 more source

Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB

ChemBioChem, Volume 25, Issue 15, August 1, 2024.
We modeled substrate interactions in NAGLU′s active site and predicted allosteric sites. Virtual screening against a human‐tested molecule database identified potential pharmacological chaperones (PCs). In vitro evaluations confirmed their binding to NAGLU and ability to restore enzymatic activity in MPS IIIB fibroblasts with mutant enzymes.
Juan Camilo Losada, Heidy Triana, Egdda Vanegas, Angela Caro, Alexander Rodríguez‐López, Angela Johana Espejo‐Mojica, Carlos Javier Alméciga‐Diaz   +6 more
wiley   +1 more source

Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I

Journal of Orthopaedic Research, Volume 42, Issue 7, Page 1409-1419, July 2024.
Abstract Mucopolysaccharidosis (MPS) I is a lysosomal storage disorder characterized by deficient alpha‐l‐iduronidase activity, leading to abnormal accumulation of glycosaminoglycans (GAGs) in cells and tissues. Synovial joint disease is prevalent and significantly reduces patient quality of life.
Yian Khai Lau, Keerthana Iyer, Snehal Shetye, Chet S. Friday, George R. Dodge, Michael W. Hast, Margret L. Casal, Rahul Gawri, Lachlan J. Smith   +8 more
wiley   +1 more source

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature

JIMD Reports, Volume 65, Issue 2, Page 85-101, March 2024.
Abstract Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult‐onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India.
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth   +11 more
wiley   +1 more source

Gene therapies for mucopolysaccharidoses

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 135-144, January 2024.
Abstract Current specific treatments for mucopolysaccharidoses (MPSs) include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). Both treatments are hampered by several limitations, including lack of efficacy on brain and skeletal manifestations, need for lifelong injections, and high costs.
Alessandro Rossi, Nicola Brunetti‐Pierri   +1 more
wiley   +1 more source

Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

Clinical Endocrinology, Volume 101, Issue 5, Page 562-568, November 2024.
Adrian H. Heald, John Bassett, Nuria Puente‐Ruiz, Peter Clayton, Karolina M. Stepien   +4 more
wiley   +1 more source

Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA

, 2022
Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase, which results in skeletal and connective tissue abnormalities, as well as various non-skeletal manifestations ...
Kim, Hyoungmin, Kim, Hwa Young, Cho, Tae-Joon, Lee, Seung Hoon, Ko, Jung Min   +4 more
core   +1 more source