[HTML][HTML] Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment

F D'Avanzo, L Rigon, A Zanetti, R Tomanin - International journal of …, 2020 - mdpi.com
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 …

[HTML][HTML] Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

EA Braunlin, PR Harmatz, M Scarpa… - Journal of inherited …, 2011 - Springer
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by
the absence of functional enzymes that contribute to the degradation of glycosaminoglycans …

[HTML][HTML] Intravenous enzyme replacement therapy in mucopolysaccharidoses: clinical effectiveness and limitations

R Parini, F Deodato - International Journal of Molecular Sciences, 2020 - mdpi.com
The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of
intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses …

[HTML][HTML] Mucopolysaccharidosis type I: a review of the natural history and molecular pathology

CS Hampe, JB Eisengart, TC Lund, PJ Orchard… - Cells, 2020 - mdpi.com
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease,
caused by deficiency of the enzyme α-L-iduronidase, resulting in accumulation of the …

[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 …

[HTML][HTML] Mucopolysaccharidosis type I: current treatments, limitations, and prospects for improvement

CS Hampe, J Wesley, TC Lund, PJ Orchard… - Biomolecules, 2021 - mdpi.com
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease, caused by a deficiency of the
enzyme alpha-L-iduronidase (IDUA). IDUA catalyzes the degradation of the …

[HTML][HTML] Anaesthesia and airway management in mucopolysaccharidosis

R Walker, KG Belani, EA Braunlin, IA Bruce… - Journal of inherited …, 2013 - Springer
This paper provides a detailed overview and discussion of anaesthesia in patients with
mucopolysaccharidosis (MPS), the evaluation of risk factors in these patients and their …

Lysosomal storage disorders affecting the heart: a review

V Nair, EC Belanger, JP Veinot - Cardiovascular Pathology, 2019 - Elsevier
Lysosomal storage disorders (LSD) comprise a group of diseases caused by a deficiency of
lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology …

[HTML][HTML] Mucopolysaccharidosis type I

F Kubaski, F de Oliveira Poswar, K Michelin-Tirelli… - Diagnostics, 2020 - mdpi.com
Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading
to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with …

[HTML][HTML] Differences in MPS I and MPS II disease manifestations

CS Hampe, BD Yund, PJ Orchard, TC Lund… - International journal of …, 2021 - mdpi.com
Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage
diseases associated with disrupted glycosaminoglycan catabolism. In MPS II, the first step of …