Results 61 to 70 of about 5,730 (195)
Molecular Genetics and Metabolism Reports, 2023 Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients.
Yusuke Hattori +8 more
doaj +1 more source
JIMD Reports, Volume 67, Issue 5, September 2026.ABSTRACT Enzyme Replacement Therapy (ERT) is the clinical standard for Mucopolysaccharidosis II (MPSII), yet its limited penetration into poorly vascularised tissues such as bone, cartilage and heart valves leaves participants with significant musculoskeletal morbidity.
Andrew Oldham +6 more
wiley +1 more source
Exposure to Common Food Additive Carrageenan Leads to Reduced Sulfatase Activity and Increase in Sulfated Glycosaminoglycans in Human Epithelial Cells [PDF]
, 2012 The commonly used food additive carrageenan, including lambda (λ), kappa (κ) and iota (ι) forms, is composed of galactose disaccharides linked in alpha-1,3 and beta-1,4 glycosidic bonds with up to three sulfate groups per disaccharide residue ...
Sumit Bhattacharyya (14205) +3 more
core +3 more sources
Yonsei Medical Journal, 2011 Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder caused by a deficiency of iduronate-2 sulfatase (IdS), which is involved in the degradation of glycosaminoglycan (GAG). In this study, the frequency of fasting hypoglycemia in patients with MPS II was investigated and changes in accumulation of glycogen and GAG in the hepatocytes of IdS ...
Lee, Jee Hyun +4 more
openaire +2 more sources
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Almost all patients with mucopolysaccharidosis (MPS) develop respiratory dysfunction of varying severity during disease progression. While respiratory disease in MPS has traditionally been attributed to upper airway obstruction caused by glycosaminoglycan (GAG) accumulation in the trachea and bronchi, involvement of the intrapulmonary ...
Martin Donnelley +14 more
wiley +1 more source
, 1993 Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole ...
Morris, C Phillip +8 more
core +1 more source
A RARE CASE OF HUNTER SYNDROME – CASE REPORT [PDF]
Romanian Journal of Pediatrics, 2015 Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a defi ciency in the activity of a specifi c lysosomal enzyme required for the degradation of ...
Lorena Elena Melit +4 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
Scientific Reports, 2023 Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body.
Ryuichi Mashima +4 more
doaj +1 more source
Chemistry – An Asian Journal, Volume 21, Issue 11, 15 June 2026.A C‐2 functionalized l‐iduronic acid derivative was designed and synthesized as a candidate pharmacological chaperone for iduronate‐2‐sulfatase (IDS), the enzyme involved in the lysosomal storage disease MPS II (Hunter syndrome). The synthesis overcomes significant synthetic challenges associated with manipulations of L‐ido scaffolds.
Vaibhavi Nagendra +12 more
wiley +1 more source