Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles
Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome …
Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome …
Lysosomal storage diseases—the horizon expands
RMN Boustany - Nature Reviews Neurology, 2013 - nature.com
Since the discovery of the lysosome in 1955, advances have been made in understanding
the key roles and functions of this organelle. The concept of lysosomal storage diseases …
the key roles and functions of this organelle. The concept of lysosomal storage diseases …
[HTML][HTML] Early initiation of enzyme replacement therapy for the mucopolysaccharidoses
J Muenzer - Molecular genetics and metabolism, 2014 - Elsevier
The mucopolysaccharidoses (MPS), a group of rare genetic disorders caused by defects in
glycosaminoglycan (GAG) catabolism, are progressive, multi-systemic diseases with a high …
glycosaminoglycan (GAG) catabolism, are progressive, multi-systemic diseases with a high …
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan
A Tanaka, T Okuyama, Y Suzuki, N Sakai… - Molecular genetics and …, 2012 - Elsevier
Hematopoietic stem cell transplantation (HSCT) has not been indicated for patients with
mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for …
mucopolysaccharidosis II (MPS II, Hunter syndrome), while it is indicated for …
Brain and spinal MR imaging findings in mucopolysaccharidoses: a review
DI Zafeiriou, SP Batzios - American Journal of …, 2013 - Am Soc Neuroradiology
MPS represents a group of rare hereditary disorders characterized by multisystem
involvement due to intralysosomal GAG accumulation. Among various tissues, both the …
involvement due to intralysosomal GAG accumulation. Among various tissues, both the …
The etiology and evolution of magnetic resonance imaging-visible perivascular spaces: Systematic review and meta-analysis
Objectives Perivascular spaces have been involved in neuroinflammatory and
neurodegenerative diseases. Upon a certain size, these spaces can become visible on …
neurodegenerative diseases. Upon a certain size, these spaces can become visible on …
Mucopolysaccharidoses I and II: brief review of therapeutic options and supportive/palliative therapies
H Nan, C Park, S Maeng - BioMed Research International, 2020 - Wiley Online Library
Purpose. Mucopolysaccharidoses (MPS) are group of inherited lysosomal storage diseases
caused by mutations of enzymes involved in catalyzing different glycosaminoglycans …
caused by mutations of enzymes involved in catalyzing different glycosaminoglycans …
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England
A Broomfield, J Davison, J Roberts, C Stewart… - Molecular genetics and …, 2020 - Elsevier
The outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since
the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is …
the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is …
[HTML][HTML] Mucopolysaccharidosis type II
M Scarpa, C Lampe - GeneReviews®[Internet], 2025 - ncbi.nlm.nih.gov
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked
multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast …
multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast …
Imaging findings of mucopolysaccharidoses: a pictorial review
S Palmucci, G Attinà, ML Lanza, G Belfiore… - Insights into …, 2013 - Springer
Introduction Mucopolysaccharidosis (MPS) represent a heterogeneous group of inheritable
lysosomal storage diseases in which the accumulation of undegraded glycosaminoglycans …
lysosomal storage diseases in which the accumulation of undegraded glycosaminoglycans …