Anterior Chamber Angles in Different Types of Mucopolysaccharidoses.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2020.01.007
Abstract: PURPOSE To evaluate the anterior chamber angle status and estimate the intraocular pressure (IOP) in patients with mucopolysaccharidoses (MPS) type I, II, IV, and VI. DESIGN Prospective cross-sectional study METHODS: This study enrolled 27 consecutive… read more here.
Keywords: angle; eyes patients; patients mps; anterior chamber ... 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
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
Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx277
Abstract: The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurological symptoms. Development of treatments for the neurological manifestations of MPS has been hindered by the lack of objective measures of central nervous… read more here.
Keywords: spermine; biomarker; disease; pathogenesis ... See more keywords
Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2021.789350
Abstract: Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The IDS gene is located on the long arm of the X-chromosome, comprising 9… read more here.
Keywords: detection; mothers mps; mosaicism; next generation ... See more keywords