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
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101408
Abstract: Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates known… read more here.
Keywords: galns gene; mps iva; stem cell;
Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.04.011
Abstract: To explore the correlation between glycosaminoglycan (GAG) levels and mucopolysaccharidosis (MPS) type, we have evaluated the GAG levels in blood of MPS II, III, IVA, and IVB and urine of MPS IVA, IVB, and VI… read more here.
Keywords: untreated mps; mps iva; age; blood urine ... See more keywords
Natural history of Morquio A patient with tracheal obstruction from birth to death
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2017.11.005
Abstract: Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation… read more here.
Keywords: mps iva; obstruction; history morquio; tracheal obstruction ... See more keywords
Biomarkers in patients with mucopolysaccharidosis type II and IV
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100455
Abstract: Glycosaminoglycans (GAGs), dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS), are the primary biomarkers in patients with mucopolysaccharidoses (MPS); however, little is known about other biomarkers. To explore potential biomarkers and their correlation… read more here.
Keywords: mps iva; mono sulfated; biomarkers patients; sulfated sulfated ... See more keywords
Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100769
Abstract: Background There is a paucity of real-world epidemiological data on patients with mucopolysaccharidoses (MPS) in Latin America. This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients… read more here.
Keywords: mps iva; iva patients; multidisciplinary clinical; management ... See more keywords
Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA.
Sign Up to like & getrecommendations! Published in 2020 at "Glycobiology"
DOI: 10.1093/glycob/cwz109
Abstract: Morquio syndrome type A, also known as MPS IVA, is a rare autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase, a lysosomal hydrolase critical in the degradation of keratan sulfate and chondroitin sulfate. The chondroitin… read more here.
Keywords: mps iva; sulfate; non reducing; disease ... See more keywords
Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Open"
DOI: 10.1136/bmjopen-2016-014410
Abstract: Objective Mucopolysaccharidosis (MPS) IVA (Morquio syndrome A) is an autosomal-recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in excessive lysosomal storage of keratan sulfate. Treatments for MPS IVA have recently become… read more here.
Keywords: bio plex; mps iva; galns; plex immunoassay ... 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
Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature
Sign Up to like & getrecommendations! Published in 2020 at "Diagnostics"
DOI: 10.3390/diagnostics10020116
Abstract: Background: Morquio A syndrome or mucopolysaccharidosis (MPS) IVA is an autosomal recessive, life-limiting lysosomal storage disease caused by deficient activity of the enzyme galactosamine-6-sulfatase. Common early symptoms such as abnormalities of body stature can facilitate… read more here.
Keywords: mps iva; morquio syndrome; study; modeling morquio ... See more keywords
Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20184610
Abstract: Morquio A syndrome, or mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disease due to mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Systemic skeletal dysplasia and the related clinical features of MPS IVA are due… read more here.
Keywords: replacement; replacement therapy; mps iva; delivery system ... See more keywords