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

YK Lau, K Iyer, S Shetye, CS Friday… - Journal of …, 2024 - Wiley Online Library
Mucopolysaccharidosis (MPS) I is a lysosomal storage disorder characterized by deficient
alpha‐l‐iduronidase activity, leading to abnormal accumulation of glycosaminoglycans …

Characterization of joint disease in mucopolysaccharidosis type I mice

PG de Oliveira, G Baldo, FQ Mayer… - International Journal …, 2013 - Wiley Online Library
Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by mutations
in enzymes that degrade glycosaminoglycans (GAG s). Joint disease is present in most …

Proteomics identifies novel biomarkers of synovial joint disease in a canine model of mucopolysaccharidosis I

C Zhang, R Gawri, YK Lau, LA Spruce… - Molecular genetics and …, 2023 - Elsevier
Mucopolysaccharidosis I is a lysosomal storage disorder characterized by deficient alpha-L-
iduronidase activity, leading to abnormal accumulation of glycosaminoglycans in cells and …

Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I

J Roth, M Inbar-Feigenberg, J Raiman, M Bisch… - Molecular genetics and …, 2021 - Elsevier
Introduction Musculoskeletal findings in MPS can progress after enzyme replacement. Our
aim was to examine synovial recesses, tendons, retinacula and pulleys using …

Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII

LJ Smith, JT Martin, SE Szczesny… - Journal of …, 2010 - Wiley Online Library
Abstract Mucopolysaccharidosis VII (MPS VII) is a lysosomal storage disorder characterized
by a deficiency in β‐glucuronidase activity, leading to systemic accumulation of poorly …

Orthopedic management of mucopolysaccharide disease

KK White, P Harmatz - Journal of pediatric rehabilitation …, 2010 - content.iospress.com
With advances in the treatment of the mucopolysaccharidosis (MPS) disorders,
musculoskeletal problems are increasingly becoming a focus of care for these patients. This …

Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I

JM Heppner, F Zaucke, LA Clarke - Molecular genetics and metabolism, 2015 - Elsevier
Progressive skeletal and connective tissue disease represents a significant clinical burden
in all of the mucopolysaccharidoses. Despite the introduction of enzyme replacement …

Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding

VN Sato, TL Moriwaki, A do Amaral e Castro… - Skeletal Radiology, 2024 - Springer
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused
by a deficiency of glycosaminoglycan (GAG) catalytic enzymes, resulting in an accumulation …

Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI

D Auclair, JJ Hopwood, JF Lemontt, L Chen… - Molecular Genetics and …, 2007 - Elsevier
Degenerative joint disease (DJD) is one aspect of mucopolysaccharidosis VI (MPS VI)
pathology that has proven resistant to systemic enzyme replacement therapy (ERT). In this …

Joint problems in patients with mucopolysaccharidosis type II

MS Kim, J Kim, ES Noh, C Kim, SY Cho… - … and rare diseases, 2021 - koreascience.kr
Hunter syndrome or mucopolysaccharidosis type II (MPS-II)(OMIM 309900) is a rare
lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2 …