Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt
Sign Up to like & getrecommendations! Published in 2021 at "Heliyon"
DOI: 10.1016/j.heliyon.2021.e07830
Abstract: Background Undegraded glycosaminoglycans (GAGs) induced by deficiency of enzymes are the primary cause of mucopolyscchardoses. Mucopolysacchardoses (MPS) are a group of rare lysosomal storage diseases (LSD). The quantification of a specific enzymatic activity is needed… read more here.
Keywords: replacement therapy; mps iva; enzyme replacement; mps mps ... See more keywords
Neurologic Recovery in MPS I and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS after the Development of Cognitive Dysfunction.
Sign Up to like & getrecommendations! Published in 2022 at "Human gene therapy"
DOI: 10.1089/hum.2022.162
Abstract: The mucopolysaccharidoses (MPS) are a group of recessively inherited conditions caused by deficiency of lysosomal enzymes essential to the catabolism of glycosaminoglycans. MPS I is caused by deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA), while… read more here.
Keywords: mps mps; gene transfer; aav9 mediated; gene ... See more keywords
Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis.
Sign Up to like & getrecommendations! Published in 2023 at "Cornea"
DOI: 10.1097/ico.0000000000003214
Abstract: PURPOSE Mucopolysaccharidoses (MPSs) are a rare group of lysosomal storage disorders characterized by the accumulation of incompletely degraded glycosaminoglycans (GAGs) in multiple organ systems, including the eye. Visual loss occurs in MPS predominantly due to… read more here.
Keywords: corneal clouding; time; mps mps; changes corneal ... See more keywords
Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies
Sign Up to like & getrecommendations! Published in 2020 at "BioMed Research International"
DOI: 10.1155/2020/2408402
Abstract: Purpose. Mucopolysaccharidoses (MPS) are group of inherited lysosomal storage diseases caused by mutations of enzymes involved in catalyzing different glycosaminoglycans (GAGs). MPS I and MPS II exhibit both somatic and neurological symptoms with a relatively… read more here.
Keywords: neurological symptoms; supportive palliative; treatment; disease ... See more keywords
Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA
Sign Up to like & getrecommendations! Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-022-02219-7
Abstract: Background Patients are the most important stakeholders in the care of any disease and have an educational need to learn about their condition and the treatment they should receive. Considering this need for patient-focused materials,… read more here.
Keywords: mps mps; patient friendly; mps iva; need patient ... See more keywords
Metabolomics reveals the mechanism of polyethylene microplastic toxicity to Daphnia magna.
Sign Up to like & getrecommendations! Published in 2022 at "Chemosphere"
DOI: 10.2139/ssrn.4126738
Abstract: Microplastic exposure leads to various toxic effects in Daphnia magna; however, the effects of microplastics on the metabolic processes in D. magna and the corresponding molecular toxicity mechanisms remain unclear. In the present study, the… read more here.
Keywords: mps mps; metabolomics reveals; toxicity; reveals mechanism ... See more keywords
Circulating Tissue Factor-Positive Procoagulant Microparticles in Patients with Type 1 Diabetes
Sign Up to like & getrecommendations! Published in 2019 at "Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy"
DOI: 10.2147/dmso.s225761
Abstract: Aim To investigate the count of circulating tissue factor-positive (TF+) procoagulant microparticles (MPs) in patients with type 1 diabetes mellitus (T1DM). Methods This case-control study included patients with T1DM and age and sex-matched healthy volunteers.… read more here.
Keywords: mps mps; procoagulant microparticles; factor positive; tissue factor ... See more keywords
Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy
Sign Up to like & getrecommendations! Published in 2020 at "Diagnostics"
DOI: 10.3390/diagnostics11010016
Abstract: Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy. Only a few studies have focused on aortic… read more here.
Keywords: root dilatation; root; root diameter; mps mps ... See more keywords
Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses
Sign Up to like & getrecommendations! Published in 2019 at "Diagnostics"
DOI: 10.3390/diagnostics9040148
Abstract: Background: Children with mucopolysaccharidosis (MPS) generally appear unaffected at birth but may develop multiple clinical manifestations including profound growth impairment as they grow older. Each type of MPS has a variable age at onset and… read more here.
Keywords: weight body; age; mps mps; growth ... See more keywords