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M Elleder

Showing results (141-150 of 191) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1994
Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduriaJ Ledvinová, H Poupĕtová, M Elleder, et al.
Ceskoslovenska Pediatrie|September 1, 1985
[Aberrations in the transport and metabolism of lipoproteins in cholesterol ester storage disease]F Stozický, J Liska, J Varvarovská, et al.
Journal of Inherited Metabolic Disease|June 27, 2009
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage processH Hůlková, J Ledvinová, H Poupetová, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 1, 1997
Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'M Elleder, J Franc, J Kraus, et al.
Ceskoslovenska Pediatrie|January 1, 1981
[GM1 gangliosidosis]J Brachfeldová, K Brachfeld, M Elleder, et al.
Annals of Human Genetics|January 31, 2003
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patientsJ Sikora, H Pavlu-Pereira, M Elleder, et al.
The Histochemical Journal|November 1, 1984
Liver findings in Niemann-Pick disease type CM Elleder, F Smíd, H Hyniová, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1984
Niemann-Pick disease type C with enhanced glycolipid storage. Report on further case of so-called lactosylceramidosisM Elleder, A Jirásek, F Smíd, et al.
Acta Paediatrica (Oslo, Norway : 1992)|October 27, 2004
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 geneK Vesela, H Hansikova, M Tesarova, et al.
Journal of Inherited Metabolic Disease|July 25, 2008
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapyP Vylet'al, H Hůlková, M Zivná, et al.
Pageof 20

Showing results (141-150 of 191) with videos related to

Sort By:
Pageof 20
Journal of Inherited Metabolic Disease|January 1, 1994
Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduriaJ Ledvinová, H Poupĕtová, M Elleder, et al.
Ceskoslovenska Pediatrie|September 1, 1985
[Aberrations in the transport and metabolism of lipoproteins in cholesterol ester storage disease]F Stozický, J Liska, J Varvarovská, et al.
Journal of Inherited Metabolic Disease|June 27, 2009
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage processH Hůlková, J Ledvinová, H Poupetová, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 1, 1997
Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'M Elleder, J Franc, J Kraus, et al.
Ceskoslovenska Pediatrie|January 1, 1981
[GM1 gangliosidosis]J Brachfeldová, K Brachfeld, M Elleder, et al.
Annals of Human Genetics|January 31, 2003
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patientsJ Sikora, H Pavlu-Pereira, M Elleder, et al.
The Histochemical Journal|November 1, 1984
Liver findings in Niemann-Pick disease type CM Elleder, F Smíd, H Hyniová, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1984
Niemann-Pick disease type C with enhanced glycolipid storage. Report on further case of so-called lactosylceramidosisM Elleder, A Jirásek, F Smíd, et al.
Acta Paediatrica (Oslo, Norway : 1992)|October 27, 2004
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 geneK Vesela, H Hansikova, M Tesarova, et al.
Journal of Inherited Metabolic Disease|July 25, 2008
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapyP Vylet'al, H Hůlková, M Zivná, et al.
Pageof 20