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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2018
Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidosesJennifer T Saville, Belinda K McDermott, Janice M Fletcher, et al.
Analytical Chemistry|July 1, 2006
Characterization of sulfated oligosaccharides in mucopolysaccharidosis type IIIA by electrospray ionization mass spectrometryKerryn E Mason, Peter J Meikle, John J Hopwood, et al.
Glycobiology|October 1, 2008
Minimum substrate requirements of endoglycosidase activities toward dermatan sulfate by electrospray ionization-tandem mass spectrometryTimothy C Nielsen, Peter J Meikle, John J Hopwood, et al.
Molecular Genetics and Metabolism|December 3, 2010
Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT)Gabor E Linthorst, Dominique P Germain, Carla E M Hollak, et al.
Molecular Genetics and Metabolism|June 5, 2012
Novel pathogenic mutations in the glucocerebrosidase locusRaquel Duran, Alisdair McNeill, Atul Mehta, et al.
Molecular Genetics and Metabolism|May 4, 2013
Retinal thinning in Gaucher disease patients and carriers: results of a pilot studyAlisdair McNeill, Gloria Roberti, Gerassimos Lascaratos, et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation|July 7, 2007
Gastric bezoar after lung transplantation in non-cystic fibrosis patients and review of the literatureErik Folch, Hasan Shakoor, Javier Gomez, et al.
Journal of Clinical Medicine|June 26, 2026
Flexible Bronchoscopy in the Intensive Care Unit: Controversies, Clinical Applications, and the Expanding Role of IntensivistsThushira Weerawarna, Rajesh Mishra, Sumara Tantray, et al.
The Journal of Pathology|October 6, 2017
Reduced cerebral vascularization in experimental neuronopathic Gaucher diseaseNicholas Jc Smith, Maria Fuller, Jennifer T Saville, et al.
Molecular Genetics and Metabolism|September 21, 2007
Secondary sphingolipid accumulation in a macrophage model of Gaucher diseaseLeanne K Hein, Peter J Meikle, John J Hopwood, et al.
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