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Morquio A Syndrome Case Report and Literature Review

Scholars Journal of Medical Case Reports, 2023
Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG) accumulation: keratan sulfate (KS) and chondroitin-6-sulfate (C6S).
Jaouaher M, Elhassnaoui M, Zouita B, Basraoui D, Jalal H   +4 more
openaire   +2 more sources

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. [PDF]

American Journal of Medical Genetics. Part A, 2017
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test.
Berger, Kenneth I, Burton, Barbara K, Decker, Celeste, Geberhiwot, Tarekegn, Harmatz, Paul R, Hendriksz, Christian J, Jameson, Elisabeth, Jester, Andrea, Mengel, Eugen, Muschol, Nicole, Sisic, Zlatko, Treadwell, Marsha   +11 more
core   +2 more sources

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome [PDF]

Molecular Genetics and Metabolism, 2016
Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks (reaching 120weeks in total from pre-treatment baseline) in an open-label, multi-center, phase III extension study.
AlSayed, MD, Berger, KI, Burton, BK, Giugliani, R, Guelbert, N, Harmatz, PR, Hendriksz, CJ, Hughes, DA, Jurecki, E, Matousek, R, Mitchell, JJ, Parini, R, Raiman, J, Shaywitz, AJ, Slasor, P, Solano Villarreal, ML, Stewart, F   +16 more
core   +2 more sources

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. [PDF]

Hum Mutat, 2021
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N‐acetylgalactosamine‐6‐sulfatase (GALNS) gene.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Tonin R, Wood T, Morrone A, Tomanin R.   +17 more
europepmc   +2 more sources

Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks

Journal of Inborn Errors of Metabolism and Screening, 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-reported ...
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   +13 more
doaj   +2 more sources

Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome. [PDF]

Drug Des Devel Ther, 2022
Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive disorder and is one of the lysosomal storage diseases. Patients with MPS IVA have a striking skeletal phenotype but normal intellect.
Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Lin SP, Lin HY.   +7 more
europepmc   +2 more sources

Morquio syndrome (MPV IV)-A case report

Indian Journal of Ophthalmology, 1991
A child, of normal intelligence, belonging to a nonconsanguineous marriage was diagnosed as MPS type IV the so called Morquio syndrome. Despite mild corneal cloudiness no other ophthalmological abnormalities were observed.
Rekhi Gulbir
doaj   +2 more sources

Elosulfase alfa enzyme replacement therapy attenuates disease progression in a non-ambulatory Japanese patient with Morquio A syndrome (case report) [PDF]

Molecular Genetics and Metabolism Reports, 2017
Enzyme replacement therapy (ERT) with elosulfase alfa is the only approved therapy in Japan for patients with Morquio A syndrome, a lysosomal storage disorder inherited in an autosomal recessive fashion.
Misako Hiramatsu, Kimitoshi Nakamura
doaj   +2 more sources

Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions. [PDF]

Int J Mol Sci
Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically by mainly ...
Álvarez JV, Bravo SB, Chantada-Vázquez MP, Pena C, Colón C, Tomatsu S, Otero-Espinar FJ, Couce ML.   +7 more
europepmc   +2 more sources

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months. [PDF]

Int J Mol Sci, 2020
Background: Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene.
Nakamura-Utsunomiya A, Nakamae T, Kagawa R, Karakawa S, Sakata S, Sakura F, Tani C, Matsubara Y, Ishino T, Tajima G, Okada S.   +10 more
europepmc   +2 more sources