[HTML][HTML] 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 …
[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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
diseases associated with disrupted glycosaminoglycan catabolism. In MPS II, the first step of …