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Journal of Inherited Metabolic Disease|February 11, 2005
Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramideP D Whitfield, J Calvin, S Hogg, et al.American Journal of Human Genetics|April 17, 1999
Juvenile hemochromatosis locus maps to chromosome 1qA Roetto, A Totaro, M Cazzola, et al.Journal of Medical Genetics|September 8, 2001
Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolismA L Kelly, P W Lunt, F Rodrigues, et al.Journal of Molecular Biology|February 20, 1992
Basis of unique red cell membrane properties in hereditary ovalocytosisA E Schofield, M J Tanner, J C Pinder, et al.Development (Cambridge, England)|December 4, 2001
Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient miceA Suter, V Everts, A Boyde, et al.Journal of Inherited Metabolic Disease|October 27, 2004
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher diseaseD Elstein, C Hollak, J M F G Aerts, et al.Journal of Anatomy|August 19, 2014
On fragmenting, densely mineralised acellular protrusions into articular cartilage and their possible role in osteoarthritisA Boyde, G R Davis, D Mills, et al.Journal of Inherited Metabolic Disease|June 19, 2001
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapyF M Platt, M Jeyakumar, U Andersson, et al.Journal of Inherited Metabolic Disease|May 30, 2008
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoringT M Cox, J M F G Aerts, N Belmatoug, et al.Journal of Inherited Metabolic Disease|November 8, 2003
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statementT M Cox, J M F G Aerts, G Andria, et al.Pageof 12