Mucopolysaccharidosis IVA: diagnosis, treatment, and management

K Sawamoto, JV Álvarez González, M Piechnik… - International journal of …, 2020 - mdpi.com
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 …

Mucopolysaccharidoses: cellular consequences of glycosaminoglycans accumulation and potential targets

AF Leal, E Benincore-Flórez, E Rintz… - International Journal of …, 2022 - mdpi.com
Mucopolysaccharidoses (MPSs) constitute a heterogeneous group of lysosomal storage
disorders characterized by the lysosomal accumulation of glycosaminoglycans (GAGs) …

[PDF][PDF] Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment

P Harmatz, R Shediac - Front Biosci (Landmark Ed), 2017 - article.imrpress.com
1. ABSTRACT Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an
autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme …

Therapies for the bone in mucopolysaccharidoses

S Tomatsu, CJ Alméciga-Díaz, AM Montaño… - Molecular genetics and …, 2015 - Elsevier
Patients with mucopolysaccharidoses (MPS) have accumulation of glycosaminoglycans in
multiple tissues which may cause coarse facial features, mental retardation, recurrent ear …

Mucopolysaccharidosis Type VI, an updated overview of the disease

F D'Avanzo, A Zanetti, C De Filippis… - International Journal of …, 2021 - mdpi.com
Mucopolysaccharidosis type VI, or Maroteaux–Lamy syndrome, is a rare, autosomal
recessive genetic disease, mainly affecting the pediatric age group. The disease is due to …

Fibrinogen scaffolds with immunomodulatory properties promote in vivo bone regeneration

DM Vasconcelos, RM Goncalves, CR Almeida… - Biomaterials, 2016 - Elsevier
The hypothesis behind this work is that fibrinogen (Fg), classically considered a pro-
inflammatory protein, can promote bone repair/regeneration. Injury and biomaterial …

Presentation and treatments for mucopolysaccharidosis type II (MPS II; Hunter syndrome)

M Stapleton, F Kubaski, RW Mason… - Expert opinion on …, 2017 - Taylor & Francis
ABSTRACT Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X-
linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS …

Emerging drugs for the treatment of mucopolysaccharidoses

R Giugliani, A Federhen, F Vairo… - Expert opinion on …, 2016 - Taylor & Francis
ABSTRACT I ntroduction: Despite being reported for the first time almost one century ago,
only in the last few decades effective have treatments become available for the …

The inflammation in the cytopathology of patients with mucopolysaccharidoses-immunomodulatory drugs as an approach to therapy

AM Wiesinger, B Bigger, R Giugliani… - Frontiers in …, 2022 - frontiersin.org
Mucopolysaccharidoses (MPS) are a group of lysosomal storage diseases (LSDs),
characterized by the accumulation of glycosaminoglycans (GAGs). GAG storage-induced …

Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI

LE Polgreen, RK Vehe, K Rudser… - Molecular genetics and …, 2016 - Elsevier
Background Children and adults with the lysosomal storage diseases
mucopolysaccharidosis (MPS) types I, II and VI live shortened lives permeated by chronic …