Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center [PDF]
Genetics and Molecular Biology, 2020 Mucopolysaccharidoses (MPS) are a group of genetic disorders, each resulting from the deficiency of one of the lysosomal enzymes that catabolizes mucopolysaccharides.
Sandra del Carmen Mendoza-Ruvalcaba +4 more
doaj +2 more sources
Comparative Study of full QCD Hadron Spectrum and Static Quark Potential with Improved Actions [PDF]
, 1999 We investigate effects of action improvement on the light hadron spectrum and the static quark potential in two-flavor QCD for $a^{-1} \approx 1$ GeV and $m_{PS}/m_V = 0.7-0.9$. We compare a renormalization group improved action with the plaquette action
A. Cucchieri +66 more
core +2 more sources
Orphanet Journal of Rare Diseases, 2022 Background Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans.
Anna Tylki-Szymańska +17 more
doaj +1 more source
International guidelines for the management and treatment of Morquio A syndrome. [PDF]
, 2014 Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I +8 more
core +2 more sources
Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA
Diagnostics, 2020 Patients with mucopolysaccharidoses IVA (MPS IVA) have a progressive accumulation of the specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS), leading to the degeneration of the cartilage matrix and its connective ...
Zhigang Wang +5 more
doaj +1 more source
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. [PDF]
, 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 +11 more
core +1 more source
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. [PDF]
, 2019 Mucopolysaccharidosis (MPS) VII is an ultra-rare, progressively debilitating, life-threatening lysosomal disease caused by deficiency of the enzyme, β-glucuronidase. Vestronidase alfa is an approved enzyme replacement therapy for MPS VII. UX003-CL301 was
Bauer, Mislen +7 more
core +1 more source
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 +5 more
doaj +1 more source
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. [PDF]
, 2014 ObjectiveTo assess the efficacy and safety of enzyme replacement therapy (ERT) with BMN 110 (elosulfase alfa) in patients with Morquio A syndrome (mucopolysaccharidosis IVA).MethodsPatients with Morquio A aged ≥5 years (N = 176) were randomised (1:1:
A McDonald +43 more
core +2 more sources
Development of Bone Targeting Drugs. [PDF]
, 2017 The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage
Alméciga-Díaz, Carlos J. +6 more
core +2 more sources