Results 81 to 90 of about 8,642 (245)
A case of mucopolysaccharidoses type I with heart involvement during infancy
The Turkish Journal of Pediatrics, 1990 We report a case of mucopolysaccharidoses I with severe cardiac involvement, which was diagnosed on the basis of clinical and laboratory findings even though, symptoms begin to occur in mucopolysaccharidoses after the first year of life.
S Demirsoy +4 more
doaj
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]
, 2019 IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut +30 more
core
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
Diagnostics, 2020 The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact.
Yasuyuki Suzuki +5 more
doaj +1 more source
Virchow-Robin spaces : an anatomic variant or a pathologic sign? [PDF]
, 2009 Virchow-Robin spaces surround blood vessels. Their walls are formed by prolongations of the pia mater and they have no communication with the subarachnoid space. VRS are often seen as well-delineated foci of cerebrospinal fluid signal on MR images.
core
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis +16 more
wiley +1 more source
Glycosaminoglycans in the human cornea: age-related changes [PDF]
, 2015 AIM: To investigate possible age-related changes in glycosaminoglycans (GAGs) in the human cornea. The substances today called GAGs were previously referred to as mucopolysaccharides.
Anello, Giulia +6 more
core +2 more sources
Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids [PDF]
, 2015 Flavonoids were found previously to modulate efficiency of synthesis of glycosaminoglycans (GAGs), compounds which are accumulated in cells of patients suffering from mucopolysaccharidoses (MPSs).
Banecki, Bogdan +9 more
core +1 more source
Gene therapies for mucopolysaccharidoses [PDF]
, 2023 Alessandro Rossi +1 more
openalex +1 more source
Clinical &Experimental Ophthalmology, Volume 53, Issue 3, Page 232-245, April 2025.ABSTRACT Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit‐lamp appearance, affected corneal layer and histological ...
Petra Liskova +3 more
wiley +1 more source