Showing results (61-70 of 107) with videos related to
Sort By:
Pageof 11
NPJ Parkinson'S Disease|August 6, 2022
Elevation of gangliosides in four brain regions from Parkinson's disease patients with a GBA mutationShani Blumenreich, Tamar Nehushtan, Or B Barav, et al.Experimental Neurology|July 10, 2012
Ablation of PGC1 beta prevents mTOR dependent endoplasmic reticulum stress responseAlberto Camacho, Sergio Rodriguez-Cuenca, Margaret Blount, et al.Journal of Medical Genetics|March 19, 2011
Screening patients referred to a metabolic clinic for lysosomal storage disordersMaria Fuller, Justin N Tucker, Debbie L Lang, et al.International Journal of Neonatal Screening|February 28, 2022
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type IIZackary M Herbst, Leslie Urdaneta, Terri Klein, et al.Molecular Genetics and Metabolism|November 16, 2004
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseasesSteven L Ramsay, Irene Maire, Colleen Bindloss, et al.Molecular Genetics and Metabolism|November 10, 2009
Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimenDyane Auclair, John Finnie, Joleen White, et al.Rheumatology (Oxford, England)|December 7, 2019
Increased monohexosylceramide levels in the serum of established rheumatoid arthritis patientsGabriel Miltenberger-Miltenyi, Ana Rita Cruz-Machado, Jennifer Saville, et al.Pediatric Research|February 1, 2012
Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI catsDyane Auclair, John Finnie, Steven U Walkley, et al.American Journal of Physiology. Heart and Circulatory Physiology|December 12, 2024
Cardiac dysfunction and altered gene expression in acid ceramidase-deficient miceAnnie Kleynerman, Jitka Rybova, William M McKillop, et al.BMC Nephrology|February 24, 2020
The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, AustraliaAndrew Mallett, Phoebe Kearey, Anne Cameron, et al.Pageof 11