Cardiac disease in mucopolysaccharidosis type III
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12015
Abstract: Mucopolysaccharidosis type III (MPS III; Sanfilippo disease) is primarily characterized by neurocognitive decline with limited somatic disease. Only few reports addressed cardiac disease (CD) in MPS III. We investigated the prevalence of CD in a… read more here.
Keywords: mucopolysaccharidosis type; type iii; disease; cardiac disease ... See more keywords
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12587
Abstract: Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease caused by α‐L‐iduronidase enzyme deficiency, resulting in glycosaminoglycan (GAG) accumulation in various cell types, including ocular tissues. Ocular manifestations in humans are common with… read more here.
Keywords: disease; clinical pathological; mucopolysaccharidosis type; canine model ... See more keywords
Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Radiology"
DOI: 10.1007/s00247-020-04946-0
Abstract: Mucopolysaccharidosis type IVA (MPS IVA) is characterized by progressive skeletal dysplasia and respiratory issues with difficult airway management during anesthesia. To characterize tracheal abnormalities in children and adults with MPS IVA including interplay of the… read more here.
Keywords: mucopolysaccharidosis type; thoracic inlet; tracheal narrowing; children adults ... See more keywords
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice
Sign Up to like & getrecommendations! Published in 2020 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-020-00592-5
Abstract: Hunter syndrome or mucopolysaccharidosis type II (MPS II) is an X-linked recessive disease caused by the deficiency of iduronate 2-sulfatase (IDS), leading to storage of undegraded heparan and dermatan sulfate. Patients with the severe form… read more here.
Keywords: mucopolysaccharidosis type; brain; activation; evidence inflammasome ... See more keywords
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.01.008
Abstract: Mucopolysaccharidosis type IH (MPS IH, Hurler syndrome) is a progressive, multisystem autosomal recessive lysosomal storage disorder resulting in the consequent accumulation of glycosaminoglycans. It is well recognized that early hematopoietic stem cell transplantation (HSCT) prevents… read more here.
Keywords: mucopolysaccharidosis type; two japanese; cell transplantation; stem cell ... See more keywords
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2017.05.008
Abstract: Hip problems in Mucopolysaccharidosis type VI (MPS VI) lead to severe disability. Lack of data on the course of hip disease in MPS VI make decisions regarding necessity, timing and type of surgical intervention difficult.… read more here.
Keywords: mucopolysaccharidosis type; hip; hip disease; development hip ... See more keywords
Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2017.07.005
Abstract: BACKGROUND The autosomal recessive, neurodegenerative disorder mucopolysaccharidosis type IIIB (MPSIIIB) is caused by a deficiency of the lysosomal enzyme N-acetyl-α-glucosaminidase (NAGLU), resulting in accumulation of heparan sulfate. The disease spectrum comprises a severe, rapidly progressing… read more here.
Keywords: mucopolysaccharidosis type; fibroblasts cultured; acetyl glucosaminidase; type iiib ... See more keywords
Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC/MS/MS.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.07.013
Abstract: Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), an enzyme that catabolizes glycosaminoglycans (GAGs) including heparan sulfate (HS) and dermatan sulfate (DS). GAG… read more here.
Keywords: gag accumulation; mucopolysaccharidosis type; sulfate; heparan sulfate ... See more keywords
Contribution of the innate and adaptive immune systems to aortic dilation in murine mucopolysaccharidosis type I.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2022.01.104
Abstract: BACKGROUND Adult immunocompetent male C57Bl/6 mucopolysaccharidosis, type I (MPSI) mice develop aortic insufficiency (AI), dilated ascending aortas and decreased cardiac function, findings not observed in immune incompetent adult male NSG MPSI mice. We sought to… read more here.
Keywords: nsg mpsi; mpsi mice; mucopolysaccharidosis type; mice ... See more keywords
Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2018.03.009
Abstract: There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric MPS-IVA… read more here.
Keywords: iva real; mucopolysaccharidosis type; real world; type iva ... See more keywords
Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100578
Abstract: Background Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a chronic progressive neurodegenerative storage disorder caused by a deficiency of lysosomal sulfamidase. The clinical hallmarks are sleep disturbances, behavioral abnormalities and loss of cognitive,… read more here.
Keywords: mps iiia; mucopolysaccharidosis type; type iiia;