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Orphanet Journal of Rare Diseases|November 6, 2025
Sphingolipids in Gaucher disease: a systematic reviewAshleigh Lake, Maria FullerJIMD Reports|July 14, 2021
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal settingMaria Fuller, David KetteridgeBMJ Open|January 24, 2025
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective studyJasmina Markulić, Maria FullerOrphanet Journal of Rare Diseases|September 8, 2017
Fabry disease and incidence of cancerSarah Bird, Efthymios Hadjimichael, Atul Mehta, et al.British Journal of Haematology|May 25, 2002
Mycophenolate mofetil for the treatment of refractory auto-immune haemolytic anaemia and auto-immune thrombocytopenia purpuraJo Howard, A Victor Hoffbrand, H Grant Prentice, et al.Orphanet Journal of Rare Diseases|September 12, 2018
A health state utility valuation study to assess the impact of treatment mode of administration in Gaucher diseaseMonica Hadi, Paul Swinburn, Luba Nalysnyk, et al.Annals of Thoracic Medicine|June 7, 2013
Broncho-vascular fistulas from self-expanding metallic stents: A retrospective case reviewChirag Choudhary, Debabrata Bandyopadhyay, Reyadh Salman, et al.Transplantation Proceedings|May 26, 2026
Non-Anastomotic Bronchial Stenosis Leading to Dual Lobar Collapse and Ex Vacuo Pleural Effusion: A Case ReportSanya Chandna, Atul Mehta, Michael Machuzak, et al.Analytical Chemistry|April 14, 2010
High-spatial resolution matrix-assisted laser desorption ionization imaging analysis of glucosylceramide in spleen sections from a mouse model of Gaucher diseaseMarten F Snel, Maria FullerThe Lancet Regional Health. Western Pacific|January 13, 2022
Prevalence of lysosomal storage disorders in Australia from 2009 to 2020Sharon J Chin, Maria FullerPageof 24