Results 61 to 70 of about 2,595 (198)

Prospective studies of swallowing in Mucopolysaccharidosis II (Hunter syndrome) before and after enzyme treatment [PDF]

, 2011
Case study with the aim to evaluate swallowing pre- and post-enzyme treatment of an individual with Mucopolysaccharidosis, and to analyze whether this treatment caused swallowing improvement.
Ferreira, Ana Carolina Rocha Gomes, Guedes, Zelita Caldeira Ferreira   +1 more
core   +4 more sources

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

JIMD Reports, 2021
Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS).
Maria Fuller, David Ketteridge
doaj   +1 more source

Clinical Characteristics and Healthcare Resource Utilization for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review

Journal of Health Economics and Outcomes Research, 2022
**Background:** Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, X-linked, life-limiting lysosomal storage disease characterized by a deficiency in the activity of the enzyme iduronate-2-sulfatase.
Olulade Ayodele, Kersten Müller, Solmaz Setayeshgar, David Alexanderian, Karen S. Yee   +4 more
doaj   +2 more sources

A rare case of severe Hunter's Syndrome

CHRISMED Journal of Health and Research, 2018
Hunter's Syndrome or mucopolysaccharidosis Type II is a rare metabolic disorder caused by the deficiency of lysosomal enzyme iduronate-2-sulfatase. It results in progressive accumulation of deramatan and heparan sulfates in tissues leading to a wide ...
Sharon Vincent, Joe Mathew Cherian, Abi M Thomas, Rajesh Kumar   +3 more
doaj   +1 more source

Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report [PDF]

Kragujevac Journal of Science, 2023
Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes.
Tubić-Vukajlović Jovana M., Bojović Lana P., Jevremović Nevena G., Simić Ivan B.   +3 more
doaj  

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III

Molecular Genetics and Metabolism Reports, 2023
Mucolipidosis type II and III (MLII/III) is caused by defects in the mannose-6-phosphate system, which is essential to target most of the lysosomal hydrolases to the lysosome.
Xinying Hong, Laura Pollard, Miao He, Michael H. Gelb, Timothy C. Wood   +4 more
doaj   +1 more source

Genome Analysis of Planctomycetes Inhabiting Blades of the Red Alga [PDF]

, 2016
Porphyra is a macrophytic red alga of the Bangiales that is important ecologically and economically. We describe the genomes of three bacteria in the phylum Planctomycetes (designated P1, P2 and P3) that were isolated from blades of Porphyra umbilicalis (
A Stamatakis, Arthur R. Grossman, B Kloareg, C Burke, C Jenkins, C Jogler, CE Wegner, CJ Gobler, D Ghosh, D Rentsch, DL Hatfield, E Alm, E Kazamia, ES Arner, F Goecke, FO Glockner, G Barbeyron, G Correc, G Levican, G Michel, G Michel, GM Preston, H Romero, HP Harding, J Allouch, J Allouch, J Bondoso, J Waring, JA Vorholt, JA Vorholt, Jane Grimwood, Jay W. Kim, Jean-François Pombert, Jeremy Schmutz, Jerry Jenkins, JH Hehemann, JH Hehemann, JH Hehemann, JH Skerratt, JL Rosner, JM Sieburth, John W. Stiller, JW Stiller, K Tait, Konstantinos Mavromatis, Kurt LaButti, L Fries, L Johansson, L Provasoli, L Puerto-Galan, LN Miranda, LS Mukai, M Jam, M Magrane, M Spoerner, M Toesch, Mansi Chovatia, Matt Nolan, Matthew Zane, MM Bengtsson, N Fernandes, NA Blouin, NA Blouin, OI Nedashkovskaya, OM Lage, P Lu, Q Zhang, R Pushker, R Santarella-Mellwig, R Santarella-Mellwig, S Arbogast, S Gromer, S Hou, S Kraan, Simon Prochnik, SR Hanson, SR Longford, Susan H. Brawley, T Barbeyron, T Barbeyron, T Dierks, T Lachnit, T Woyke, TJ Treangen, V Hofstetter, Y Matsuo, Y Matsuo, Y Zhang, ZA Popper   +88 more
core   +4 more sources

RNF13 is a previously undescribed interactor of iduronate 2‐sulfatase that modifies its glycosylation and maturation

The FEBS Journal, EarlyView.
Iduronate 2‐sulfatase (IDS; purple) is expressed as a precursor protein that goes through multiple steps of maturation, modification, and trafficking to become an active lysosomal enzyme that degrades glycosaminoglycans. Our study shows that the transmembrane ubiquitin ligases RNF13 (orange) and RNF167 (pink) heterodimerize, affecting IDS intracellular
Valérie C. Cabana, Antoine Y. Bouchard, Audrey M. Sénécal, Laurent Cappadocia, Marc P. Lussier   +4 more
wiley   +1 more source

Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II

Journal of Pediatric Emergency and Intensive Care Medicine, 2019
Mucopolysaccharidosis type II (MPS II) is a rare, X-linked recessive disease characterized by deficiency of lysosomal iduronate-2-sulfatase. Progressive upper airway obstruction is common in patients with MPS II.
Damla Hanalioğlu, Batuhan Yeke, Ahmet Ziya Birbilen, Serap Sivri, Özlem Tekşam   +4 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

Stem Cell Research, 2019
Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei Zheng   +8 more
doaj   +1 more source