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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.
American Journal of Hematology|March 25, 2015
Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trialsDerralynn A Hughes, Derlis E Gonzalez, Elena A Lukina, et al.
Chest|February 3, 2018
Radiation Exposure in the Medical ICU: Predictors and CharacteristicsSudhir Krishnan, Ajit Moghekar, Abhijit Duggal, 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.
The Hematology Journal : the Official Journal of the European Haematology Association|July 12, 2002
A novel treatment approach for low grade lymphoproliferative disorders using PKC412 (CGP41251), an inhibitor of protein kinase CAndres Virchis, Kanagasabai Ganeshaguru, Steve Hart, et al.
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