Results 111 to 120 of about 3,483 (174)

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis. [PDF]

Mol Genet Metab
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tayebi N, Dickson PI, Porter FD, Ory DS, Jiang X.   +14 more
europepmc   +1 more source

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation. [PDF]

J Clin Invest
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, Cairo CW, Holley RJ, Bigger B, Durcan TM, Levade T, Ausseil J, Amilhon B, Gorelik A, Nagar B, Khan S, Tomatsu S, Sturiale L, Palmigiano A, Röckle I, Thiesler H, Hildebrandt H, Garozzo D, Pshezhetsky AV.   +23 more
europepmc   +1 more source

Clavicular Head Subluxation Resulting in Tracheal Compromise in an Osteogenesis Imperfecta Type III Patient: A Case Report. [PDF]

Cureus
Oommen A, Froass D, Dobish M.
europepmc   +1 more source

Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients. [PDF]

Mol Genet Metab Rep
El Fissi H, Bouzid F, Sebbar MS, Serghini MA, Msanda F, Alif N.   +5 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

Iron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses. [PDF]

Mol Genet Metab Rep
Kaciulyte G, Yorulmaz G, Sharma R, Jones SA, Wynn R, Church H, Tylee K, Bilgin M, Jovanovic A, Woolfson P, Stepien KM.   +10 more
europepmc   +1 more source

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review. [PDF]

World J Methodol
Tsirikos AI, Jain A, Ahuja K.
europepmc   +1 more source

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of <i>Drosophila melanogaster</i> During Aging. [PDF]

Cells
Markaki SP, Kiose NM, Charitopoulou ZA, Kougioumtzoglou S, Velentzas AD, Stravopodis DJ.   +5 more
europepmc   +1 more source

Heparan sulfate binding protein treatment ameliorates neuropathology and behavioral abnormalities in mucopolysaccharidosis IIIB mice. [PDF]

Cell Death Discov
Anzilotti S, Scarcella M, Ciampa M, Di Muraglia N, Anastasio C, Fiorentino C, Rossin F, Avallone L, Pignataro G, Pavone LM, De Pasquale V.   +10 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