Results 141 to 150 of about 7,143 (200)

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

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

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

Explainable AI-driven graph-based neural networks for mucopolysaccharidoses diagnosis. [PDF]

BioData Min
Fadul R, Tumzghi N, Seghier M, Al-Jasmi F, AlShehhi A.   +4 more
europepmc   +1 more source

[Mucopolysaccharidoses].

Pediatria polska, 1966
openaire   +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

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

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

Mucopolysaccharidoses

, 2010
openaire   +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