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M F Vincent

Showing results (41-50 of 50) with videos related to

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Journal of Inherited Metabolic Disease|May 20, 2005
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease typeL Van Maldergem, A B Moser, M-F Vincent, et al.
Current Biology : CB|November 9, 2000
Phosphorylation and activation of heart PFK-2 by AMPK has a role in the stimulation of glycolysis during ischaemiaA S Marsin, L Bertrand, M H Rider, et al.
Annals of Internal Medicine|September 1, 2001
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic toolA Simon, L Cuisset, M F Vincent, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical featuresM Köhler, B Assmann, C Bräutigam, et al.
Prenatal Diagnosis|March 4, 2000
Prenatal diagnosis in adenylosuccinate lyase deficiencyS Marie, J W Flipsen, M Duran, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndromeL Cuisset, J P Drenth, A Simon, et al.
Nucleosides, Nucleotides & Nucleic Acids|December 2, 2004
Adenylosuccinate lyase deficiency--first British caseA M Marinaki, M Champion, M A Kurian, et al.
American Journal of Medical Genetics|April 5, 2002
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fracturesP Volders, J Van Hove, R J U Lories, et al.
Human Mutation|March 25, 1999
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceS Marie, H Cuppens, M Heuterspreute, et al.
European Journal of Pediatrics|November 1, 1988
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesisJ Jaeken, S K Wadman, M Duran, et al.
Pageof 5

Showing results (41-50 of 50) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 50 results.
Journal of Inherited Metabolic Disease|May 20, 2005
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease typeL Van Maldergem, A B Moser, M-F Vincent, et al.
Current Biology : CB|November 9, 2000
Phosphorylation and activation of heart PFK-2 by AMPK has a role in the stimulation of glycolysis during ischaemiaA S Marsin, L Bertrand, M H Rider, et al.
Annals of Internal Medicine|September 1, 2001
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic toolA Simon, L Cuisset, M F Vincent, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical featuresM Köhler, B Assmann, C Bräutigam, et al.
Prenatal Diagnosis|March 4, 2000
Prenatal diagnosis in adenylosuccinate lyase deficiencyS Marie, J W Flipsen, M Duran, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndromeL Cuisset, J P Drenth, A Simon, et al.
Nucleosides, Nucleotides & Nucleic Acids|December 2, 2004
Adenylosuccinate lyase deficiency--first British caseA M Marinaki, M Champion, M A Kurian, et al.
American Journal of Medical Genetics|April 5, 2002
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fracturesP Volders, J Van Hove, R J U Lories, et al.
Human Mutation|March 25, 1999
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceS Marie, H Cuppens, M Heuterspreute, et al.
European Journal of Pediatrics|November 1, 1988
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesisJ Jaeken, S K Wadman, M Duran, et al.
Pageof 5