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H Michelakakis

Showing results (21-30 of 41) with videos related to

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Blood Cells, Molecules & Diseases|January 30, 2002
Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapyH Michelakakis, A Skardoutsou, J Mathioudakis, et al.
Journal of Internal Medicine|January 5, 2000
Systemic AL amyloidosis in Gaucher disease. A case report and review of the literatureA Kaloterakis, A Filiotou, J Koskinas, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studiesH Michelakakis, E Dimitriou, S Van Weely, et al.
European Journal of Pediatrics|August 1, 1997
Iron overload and urinary lysosomal enzyme levels in beta-thalassaemia majorH Michelakakis, E Dimitriou, H Georgakis, et al.
Clinical Neurology and Neurosurgery|January 11, 2011
Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapyG K Papadimas, K Spengos, A Konstantinopoulou, et al.
Molecular Genetics and Metabolism|October 8, 2010
Body composition analysis in late-onset Pompe diseaseG K Papadimas, G Terzis, S Methenitis, et al.
Balkan Journal of Medical Genetics : BJMG|October 28, 2016
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reportsE Vargiami, E Papathanasiou, S Batzios, et al.
Journal of Inherited Metabolic Disease|September 19, 2007
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek childM Fotoulaki, E H Schuchman, C M Simonaro, et al.
Human Genetics|August 21, 2001
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type BE Paschke, I Milos, H Kreimer-Erlacher, et al.
Clinical Genetics|February 24, 2010
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutationsD Hofer, K Paul, K Fantur, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
Blood Cells, Molecules & Diseases|January 30, 2002
Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapyH Michelakakis, A Skardoutsou, J Mathioudakis, et al.
Journal of Internal Medicine|January 5, 2000
Systemic AL amyloidosis in Gaucher disease. A case report and review of the literatureA Kaloterakis, A Filiotou, J Koskinas, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studiesH Michelakakis, E Dimitriou, S Van Weely, et al.
European Journal of Pediatrics|August 1, 1997
Iron overload and urinary lysosomal enzyme levels in beta-thalassaemia majorH Michelakakis, E Dimitriou, H Georgakis, et al.
Clinical Neurology and Neurosurgery|January 11, 2011
Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapyG K Papadimas, K Spengos, A Konstantinopoulou, et al.
Molecular Genetics and Metabolism|October 8, 2010
Body composition analysis in late-onset Pompe diseaseG K Papadimas, G Terzis, S Methenitis, et al.
Balkan Journal of Medical Genetics : BJMG|October 28, 2016
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reportsE Vargiami, E Papathanasiou, S Batzios, et al.
Journal of Inherited Metabolic Disease|September 19, 2007
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek childM Fotoulaki, E H Schuchman, C M Simonaro, et al.
Human Genetics|August 21, 2001
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type BE Paschke, I Milos, H Kreimer-Erlacher, et al.
Clinical Genetics|February 24, 2010
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutationsD Hofer, K Paul, K Fantur, et al.
Pageof 5