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Journal of Inherited Metabolic Disease|April 9, 2014
Lysosomal diseases: diagnostic updateBryan WinchesterGenetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2009
A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry diseaseCatharina Whybra, Elke Miebach, Eugen Mengel, et al.Human Mutation|May 18, 2004
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III ANicole Muschol, Stephan Storch, Diana Ballhausen, et al.Plos One|March 18, 2015
Ocular signs correlate well with disease severity and genotype in Fabry diseaseSusanne Pitz, Gisela Kalkum, Laila Arash, et al.European Journal of Pediatrics|September 25, 2003
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescentsMarkus Ries, Uma Ramaswami, Rossella Parini, et al.Journal of the American College of Cardiology|November 13, 2002
Cardiac manifestations of Anderson-Fabry disease in heterozygous femalesChristoph Kampmann, Frank Baehner, Catharina Whybra, et al.FEBS Letters|April 12, 2002
Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometryKevin Mills, Andrew Johnson, Bryan WinchesterPediatric Nephrology (Berlin, Germany)|July 14, 2006
IgA nephropathy in two adolescent sisters heterozygous for Fabry diseaseCatharina Whybra, Andreas Schwarting, Jörg Kriegsmann, et al.Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Disease manifestations and X inactivation in heterozygous females with Fabry diseaseEsther M Maier, Stephanie Osterrieder, Catharina Whybra, et al.Pageof 31