Results 61 to 70 of about 2,842 (215)

The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation [PDF]

, 2014
The adsorption of blood proteins, serum albumin (BSA), immunoglobulin G (IgG) and fibrinogen (FGN), onto model SiO2 planar surfaces coated with poly-l-lysine/heparin multilayers (PLL/HEP) has been investigated by means of ellipsometry and quartz crystal ...
Ingela Wiklund, Mireia Raluy-Callado, Wen-Hung Chen, Joseph Muenzer, Juanzhi Fang, David Whiteman   +5 more
core   +2 more sources

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics, 2020
RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +7 more
doaj   +1 more source

Fusion of RVG or gh625 to Iduronate-2-Sulfatase for the Treatment of Mucopolysaccharidosis Type II [PDF]

, 2023
Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disease caused by a mutation in the IDS gene, resulting in deficiency of the enzyme iduronate-2-sulfatase (IDS) causing heparan sulfate (HS) and dermatan sulfate (DS) accumulation in all cells.
Bigger, Brian, Burgod, Constance, Chaudrhy, Ahsan, Cook, James, Ellison, Stuart, Forte, Gabriella, Gleitz, Helene F, Holley, Rebecca Jane, Liao, Aiyin, O'Leary, Claire, Searle, Rachel, Tehseen, Ghazala, Wood, Shaun Roger   +12 more
core  

Identification of 6 new mutations in the iduronate sulfatase gene [PDF]

Human Mutation, 1999
Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype / phenotype relationships and offer carrier testing where
Hilary D. Vallance, Lynn Bernard, Michael Rashed, Doris Chiu, Grace Le, Jenny Toone, Derek A. Applegarth, Marion Coulter-Mackie   +7 more
openaire   +1 more source

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II

Molecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders ...
Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima   +7 more
doaj   +1 more source

Therapeutic potential of stem cells in pediatric neurology: Insights from clinical trials

Neuroprotection, Volume 3, Issue 4, Page 303-321, December 2025.
Key characteristics of stem cells. Stem cells are essential in therapy due to their ability to self‐renew, ensuring a continuous supply of cells. They can derive from various sources, primarily embryonic tissue, and adult organs such as bone marrow and adipose tissue.
Daniel Bou Najm, Saada Alame
wiley   +1 more source

Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS [PDF]

, 2014
Background - Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints.
Chan, Mercedes, Foster, Helen, Hardy, Elizabeth, Hensman, Pauline, Jones, Simon, Rapley, Timothy, Sen, Ethan, Wraith, Edmond   +7 more
core   +2 more sources

Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II : a phase 2 trial in Brazil [PDF]

, 2021
In Hunter syndrome (mucopolysaccharidosis II [MPS-II]),systemic accumulation of glycosaminoglycans (GAGs) dueto a deficiency of iduronate-2-sulfatase (IDS), caused by mu-tations in theIDSgene, leads to multiple somatic manifesta-tions and in patients ...
Giugliani, Roberto, Ikeda, Toshiaki, Martins, Ana Maria (Medicina), Sato, Yuji, Schmidt, Mathias, So, Sairei, Sonoda, Hiroyuki, Tanizawa, Kazunori, Yamamoto, Tatsuyoshi, Yamaoka, Mariko   +9 more
core   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco [PDF]

, 2020
Background: Rapid and accurate diagnosis of mucopolysaccharidoses (MPS) is still a challenge due to poor access to screening and diagnostic methods and to their extensive clinical heterogeneity.
Aldámiz Echevarria, Luis, Andrade, Fernando, Bennaoui, Fatiha, Boualy, Brahim, Bourrahouat, Aicha, Bouskraoui, Mohammed, Daoudi, Abdellatif, Elqadiry, Rabiy, Ezoubeiri, Aicha, Fdil, Naima, Fouad, Adil, González-Lamuño Leguina, Domingo, Karim, Abdallah, Lalaoui, Abdessamad, Rada, Noureddine, Saab, Imane Ait, Sabir, Es-Said, Slitine, Nadia   +17 more
core   +1 more source