Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.
Sign Up to like & getrecommendations! Published in 2023 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.51772
Abstract: OBJECTIVE Mucopolysaccharidosis type IIIA (MPSIIIA) caused by recessive SGSH variants results in sulfamidase deficiency, leading to neurocognitive decline and death. No disease-modifying therapy is available. The AAVance gene therapy trial investigates AAVrh.10 overexpressing human sulfamidase… read more here.
Keywords: intracerebral gene; mucopolysaccharidosis; focal lesions; therapy ... See more keywords
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24328
Abstract: Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of Iranian MPS… read more here.
Keywords: diagnosis; mucopolysaccharidosis; cohort; molecular characterization ... See more keywords
Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0014-x
Abstract: To the Editor, We read with great interest the manuscript titled BAngiotensin receptor blockade mediated amelioration of mucopoly saccharidosis type I cardiac and craniofacial pathology^ recently published in the Journal of Inherited Metabolic Disorders (Osborn… read more here.
Keywords: mucopolysaccharidosis; dilatation; mice; cardiovascular disease ... See more keywords
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0242-8
Abstract: IntroductionMucopolysaccharidosis VI is a rare disease characterized by the arylsulfatase B enzyme deficiency, which is responsible for different clinical manifestations. The treatment consists of enzyme replacement therapy with intravenous administration of galsulfase.ObjectiveEvaluate the effectiveness of… read more here.
Keywords: mucopolysaccharidosis; replacement therapy; treatment; enzyme replacement ... See more keywords
Mucopolysaccharidosis type I associated corneal disease: A clinicopathologic study.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2021.05.014
Abstract: PURPOSE To report the anterior segment clinical features as well as histopathologic and histochemical characteristics of corneal findings associated with the largest reported cohort of patients with Hurler Syndrome and other variants of mucopolysaccharidosis (MPS)… read more here.
Keywords: mucopolysaccharidosis; stained sections; disease; study ... See more keywords
Molecular profiling of failed endochondral ossification in mucopolysaccharidosis VII.
Sign Up to like & getrecommendations! Published in 2019 at "Bone"
DOI: 10.1016/j.bone.2019.115042
Abstract: Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient activity of β-glucuronidase, leading to progressive accumulation of incompletely degraded heparan, dermatan, and chondroitin sulfate glycosaminoglycans (GAGs). Patients with MPS VII exhibit progressive skeletal… read more here.
Keywords: mucopolysaccharidosis; endochondral ossification; mps vii; ossification ... See more keywords
Effects of lithium administration on vertebral bone disease in mucopolysaccharidosis I dogs.
Sign Up to like & getrecommendations! Published in 2021 at "Bone"
DOI: 10.1016/j.bone.2021.116237
Abstract: Mucopolysaccharidosis (MPS) I is a lysosomal storage disease characterized by deficient activity of the enzyme alpha-L-iduronidase, leading to abnormal accumulation of heparan and dermatan sulfate glycosaminoglycans in cells and tissues. Patients commonly exhibit progressive skeletal… read more here.
Keywords: lysosomal storage; mucopolysaccharidosis; disease; bone ... See more keywords
Healthcare Resource Utilization and the Cost of Care for Mucopolysaccharidosis I Patients in Iran.
Sign Up to like & getrecommendations! Published in 2019 at "Value in health regional issues"
DOI: 10.1016/j.vhri.2019.01.009
Abstract: BACKGROUND Mucopolysaccharidosis I (MPS-I) is one of the most common types of MPS and lysosomal storage diseases, which impose considerable amount of economic burden on society. OBJECTIVES The aim of this study was to examine… read more here.
Keywords: resource utilization; healthcare resource; mucopolysaccharidosis; utilization cost ... See more keywords
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2017.05.010
Abstract: Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and… read more here.
Keywords: mucopolysaccharidosis; stem cell; cell transplantation; hematopoietic stem ... See more keywords
Hearing Loss in Mucopolysaccharidosis
Sign Up to like & getrecommendations! Published in 2021 at "International Archives of Otorhinolaryngology"
DOI: 10.1055/s-0040-1712107
Abstract: Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic… read more here.
Keywords: mucopolysaccharidosis; hearing loss; audiology tests; audiology ... See more keywords
Patient iPSC‐derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I
Sign Up to like & getrecommendations! Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy259
Abstract: Abstract Mucopolysaccharidosis type I (MPS I) is caused by deficiency of &agr;‐l‐iduronidase (IDUA), a lysosomal enzyme involved in the breakdown and recycling of glycosaminoglycans (GAGs). Although enzyme replacement therapy is available, the efficacy of the… read more here.
Keywords: mucopolysaccharidosis; disease; severity; stem ... See more keywords