Results 121 to 130 of about 3,483 (174)

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. [PDF]

Cureus
Quaicoe ASP, Cornish EE, Chong R.
europepmc   +1 more source

Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice. [PDF]

J Clin Invest
Le SQ, Sorensen A, Sukupolvi S, Jewhurst G, Austin G, Doray B, Cooper JD, Dickson PI.   +7 more
europepmc   +1 more source

The Hidden Burden: Gastrointestinal Involvement in Lysosomal Storage Disorders. [PDF]

Metabolites
Gragnaniello V, Cazzorla C, Gueraldi D, Puma A, Loro C, Burlina AB.   +5 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis. [PDF]

Biomedicines
Teresi L, Trimarchi G, Licordari R, Restelli D, Taverna G, Liotta P, Micari A, Smecca I, Dendramis G, Turturiello D, Latini AC, Falasconi G, de Gregorio C, Crea P, Dattilo G, Berruezo A, Micari A, Di Bella G.   +17 more
europepmc   +1 more source

Dry synovitis, RF-negative: a rare entity distinct from juvenile idiopathic arthritis. [PDF]

Rheumatol Adv Pract
Dghaish R, Qouqas M, Manhal A, Abdallah J, Nairoukh A, Zaben B, Abunejma F.   +6 more
europepmc   +1 more source

Mucopolysaccharidoses

, 2010
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Misdiagnosis in mucopolysaccharidoses

Journal of Applied Genetics, 2022
Mucopolysaccharidosis (MPS) is a group of 13 hereditary metabolic diseases identified in humans (or 14 diseases if considering one MPS type described to date only in mice) in which an enzymatic defect results in the accumulation of glycosaminoglycans (GAG) in the lysosomes of cells.
Karolina Wiśniewska, Wolski, Jakub, Lidia Gaffke, Zuzanna Cyske, Karolina Pierzynowska, Grzegorz Węgrzyn   +5 more
openaire   +2 more sources

Update in the Mucopolysaccharidoses

Seminars in Pediatric Neurology, 2021
The mucopolysaccharidoses (MPS) are a genetically heterogenous group of enzyme deficiencies marked by accumulation of glycosaminoglycans in lysosomes leading to multisystem disease. Although significant therapeutic advances have been made for the MPS disorders, including recombinant enzyme replacement approaches, the neuronopathic features of MPS lack ...
Kim L, McBride, Kevin M, Flanigan
openaire   +2 more sources