Results 21 to 30 of about 1,973 (193)

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program. [PDF]

Mol Genet Metab Rep, 2018
There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions.
Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutiérrez-Solana LG, Guillén-Navarro E, O'Callaghan M, Del Toro M.   +6 more
europepmc   +2 more sources

A novel image-based classification system for atlantoaxial deformity caused by mucopolysaccharidosis type IVA: an efficacy evaluation. [PDF]

J Orthop Surg Res
Study design Retrospective Study. Objective Type IVA mucopolysaccharidosis (MPS) is often associated with atlantoaxial deformity, and lacks a unified surgical treatment standard or classification system.
Zhang QQ, Wen-Ji S, Song J, Liang ZH, Zhou FC, Liu HT, Shao J, Zhang YH.   +7 more
europepmc   +2 more sources

<i>In vivo</i> direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model. [PDF]

Mol Ther Methods Clin Dev
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage.
Celik B, Rintz E, Khan S, Leal AF, Nidhi F, Tomatsu S.   +5 more
europepmc   +2 more sources

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA. [PDF]

Int J Mol Sci, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Skeletal dysplasia and the related clinical features of MPS IVA are caused by disruption of the cartilage and its extracellular matrix, leading to a growth imbalance.
Álvarez VJ, Bravo SB, Chantada-Vazquez MP, Colón C, De Castro MJ, Morales M, Vitoria I, Tomatsu S, Otero-Espinar FJ, Couce ML.   +9 more
europepmc   +7 more sources

Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA. [PDF]

J Pers Med, 2023
Mucopolysaccharidosis (MPS) is a hereditary disorder arising from lysosomal enzymes deficiency, with glycosaminoglycans (GAGs) storage in connective tissues and bones, which may compromise the airway. This retrospective study evaluated patients with MPS type IVA with airway obstruction detected via endoscopy and imaging modalities and the effects of ...
Lee YH, Su CH, Lin CY, Lin HY, Lin SP, Chuang CK, Lee KS.   +6 more
europepmc   +3 more sources

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).

Afr J Paediatr Surg, 2016
Background: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS) type IV (Morquio′s syndrome).
Al Kaissi A, Kenis V, Melchenko E, Ghachem MB, Csepan R, Grill F, Ganger R.   +6 more
europepmc   +2 more sources

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA. [PDF]

Int J Mol Sci
Mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome) is a rare inherited disorder characterized by skeletal dysplasia due to deficient N-acetylgalactosamine-6-sulfate sulfatase activity, resulting in glycosaminoglycan (GAG) accumulation. Identifying accurate biomarkers reflecting clinical severity and therapeutic response remains challenging ...
Ago Y, Khan S, Klipner K, Bradford A, Tomatsu S.   +4 more
europepmc   +2 more sources

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA [PDF]

Journal of Inherited Metabolic Disease, 2012
AbstractMucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine‐6‐sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition.
A Dorfman, A James, A Koto, A McDonald, A Sheiham, AH Yeung, AM Montaño, ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories, B Käsmann-Kellner, BS Danes, C. Gail Summers, CF Wippermann, Christian J. Hendriksz, Ciarán Mc Ardle, CJ Pelley, DB Davis, DM Gross, E Franco, E Schleier, ED Riedner, Elizabeth Braunlin, Elizabeth Wright, F Bromo, F Nicolini, FA Abraham, G Keleman, GL Semenza, GN Lael, H Northover, H Olsen, I Rolling, IH Maumenee, J Ashraf, J Couprie, J Glössl, J Lustmann, J Muenzer, J Nelson, J Nelson, J Nelson, J Nelson, JE Wraith, JE Wraith, JF Brailsford, JG Leroy, JH Dangel, JK Bredenkamp, JL Ashworth, JL Clausen, JP Gills, Kenneth I. Berger, KG Belani, L Geetha, LB Cantor, LS Leung, M Cahane, M Ghosh, M Iwamoto, M Sibilio, MA Gatzoulis, MA Ireland, Maisoon Al-Jawad, ME Dangel, ME Peters, MJ Kinirons, MO Barry, MR Pritzker, N Latif, P Harmatz, P Harmatz, P Harmatz, PD Robinson, PP Walker, PS Pagel, R Minami, R Minami, Rebecca Lawrence, RM John, RM Schieken, RO Bonow, RO Bonow, RT Sataloff, S Desai, S Kato, S Sato, S Tomatsu, S Tomatsu, Sara M. Hawley, SJ Swiedler, SL Shih, SM Factor, T Kuratani, T Leslie, TZ Nursal, UR Mohan, V Fesslová, W Holzgreve, WJ Buhain, WS Sly, Y Yamakoshi   +99 more
core   +5 more sources

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Couce, Maria L., Otero, Francisco J., Piechnik, Matthew, Sawamoto, Kazuki, Suzuki, Yasuyuki, Tomatsu, Shunji, Álvarez González, José Víctor   +6 more
core   +2 more sources

Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography. [PDF]

Pediatr Radiol, 2021
Mucopolysaccharidosis type IVA (MPS IVA) is characterized by progressive skeletal dysplasia and respiratory issues with difficult airway management during anesthesia.To characterize tracheal abnormalities in children and adults with MPS IVA including interplay of the trachea, vasculature, bones and thyroid at the thoracic inlet.Computed tomography (CT)
Averill LW, Kecskemethy HH, Theroux MC, Mackenzie WG, Pizarro C, Bober MB, Ditro CP, Tomatsu S.   +7 more
europepmc   +3 more sources