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F Trijbels

Showing results (11-20 of 39) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1985
Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndromeL Govaerts, J Bakkeren, L Monnens, et al.
Journal of Inherited Metabolic Disease|January 7, 2004
Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villiL Niers, L van den Heuvel, F Trijbels, et al.
European Journal of Pediatrics|April 1, 1992
Beta-mannosidosis and ethanolaminuria in a female patientH Wijburg, J de Jong, R Wevers, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondriaJ Smeitink, W Ruitenbeek, R Sengers, et al.
Human Genetics|December 22, 1998
The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patientsR Triepels, L van den Heuvel, J Loeffen, et al.
Neurology|April 1, 1981
Pyruvate dehydrogenase deficiency restricted to brainM Prick, F Gabreëls, W Renier, et al.
Human Genetics|June 1, 2000
Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patientsR Triepels, J Smeitink, J Loeffen, et al.
Biofactors (Oxford, England)|May 6, 1998
Disturbances in mitochondrial transport systems leading to encephalomyopathiesF Trijbels, M Huizing, W Ruitenbeek, et al.
European Journal of Pediatrics|January 1, 1980
Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndromeL Monnens, J Bakkeren, G Parmentier, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegiaJ Smeitink, A Stadhouders, R Sengers, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Journal of Inherited Metabolic Disease|January 1, 1985
Disturbed very long chain (C24-C26) fatty acid pattern in fibroblasts of patients with Zellweger's syndromeL Govaerts, J Bakkeren, L Monnens, et al.
Journal of Inherited Metabolic Disease|January 7, 2004
Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villiL Niers, L van den Heuvel, F Trijbels, et al.
European Journal of Pediatrics|April 1, 1992
Beta-mannosidosis and ethanolaminuria in a female patientH Wijburg, J de Jong, R Wevers, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondriaJ Smeitink, W Ruitenbeek, R Sengers, et al.
Human Genetics|December 22, 1998
The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patientsR Triepels, L van den Heuvel, J Loeffen, et al.
Neurology|April 1, 1981
Pyruvate dehydrogenase deficiency restricted to brainM Prick, F Gabreëls, W Renier, et al.
Human Genetics|June 1, 2000
Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patientsR Triepels, J Smeitink, J Loeffen, et al.
Biofactors (Oxford, England)|May 6, 1998
Disturbances in mitochondrial transport systems leading to encephalomyopathiesF Trijbels, M Huizing, W Ruitenbeek, et al.
European Journal of Pediatrics|January 1, 1980
Disturbances in bile acid metabolism of infants with the Zellweger (cerebro-hepato-renal) syndromeL Monnens, J Bakkeren, G Parmentier, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegiaJ Smeitink, A Stadhouders, R Sengers, et al.
Pageof 4