Results 171 to 180 of about 8,642 (245)

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

Mucopolysaccharidoses

, 2020
openaire   +2 more sources

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

Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins

TianMeng Xu, Rachel Heon‐Roberts, Travis I. Moore, Patricia Dubot, Xuefang Pan, Tianlin Guo, Christopher W. Cairo, Rebecca Holley, Brian Bigger, Thomas M. Durcan, Thierry Levade, Jérôme Ausseil, Bénédicte Amilhon, A. Gorelik, Bhushan Nagar, Luisa Sturiale, Angelo Palmigiano, Iris Röckle, Hauke Thiesler, Herbert Hildebrandt, Domenico Garozzo, Alexey V. Pshezhetsky   +21 more
openalex   +2 more sources

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

College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance. [PDF]

Genet Med Open
Cusmano-Ozog K, Matern D, Long T, Longo N, Young S.   +4 more
europepmc   +1 more source

Oral and craniofacial manifestations of mucopolysaccharidoses [PDF]

, 2020
M. Fernanda C. Leal, Inês Lopes Cardoso, Renata Om Dias   +2 more
openalex  

The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023. [PDF]

Diagnostics (Basel)
Tulebayeva A, Mukhambetova G, Sharipova M, Tylki-Szymanska A.   +3 more
europepmc   +1 more source

FUNCTIONAL INDEPENDENCE OF PEDIATRIC PATIENTS WITH MUCOPOLYSACCHARIDOSES

, 2019
Paloma Silva Lopes, Diógenes Pires Serra Filho, Marcos Almeida Matos   +2 more
openalex   +1 more source

Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease. [PDF]

Brain Sci
Waśniewska-Włodarczyk A, Pepaś R, Rosiak O, Konopka W.   +3 more
europepmc   +1 more source