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Showing results (51-60 of 169) with videos related to

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Clinical Genetics|May 1, 1985
Antenatal diagnosis of infantile Refsum's diseaseB T Poll-The, A Poulos, P Sharp, et al.
Journal of Inherited Metabolic Disease|October 14, 2000
Isolated and contiguous glycerol kinase gene disorders: a reviewD R Sjarif, J K Ploos van Amstel, M Duran, et al.
European Journal of Pediatrics|August 1, 1997
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus techniqueC Jakobs, J Kneer, D Martin, et al.
Biochimica Et Biophysica Acta|January 22, 2008
Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophyM Engelen, R Ofman, P A W Mooijer, et al.
Human Mutation|January 1, 1995
Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiencyT Fukao, X Q Song, S Yamaguchi, et al.
Journal of Medicinal Chemistry|August 20, 1993
Selective non-nucleoside HIV-1 reverse transcriptase inhibitors. New 2,3-dihydrothiazolo[2,3-a]isoindol-5(9bH)-ones and related compounds with anti-HIV-1 activityA Mertens, H Zilch, B König, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Formiminoglutamic/hydantoinpropionic aciduria in two siblingsM Duran, L Dorland, E E Meuleman, et al.
American Journal of Medical Genetics|March 10, 2001
Isolated glycerol kinase deficiency and Fanconi anemiaD R Sjarif, T Révész, T J de Koning, et al.
Virchows Archiv : an International Journal of Pathology|July 6, 2000
Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiencyI Kerckaert, B T Poll-The, M Espeel, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|June 19, 2001
Na+ transport in normal and CF human bronchial epithelial cells is inhibited by BAY 39-9437R J Bridges, B B Newton, J M Pilewski, et al.
Pageof 17

Showing results (51-60 of 169) with videos related to

Sort By:
Pageof 17
Clinical Genetics|May 1, 1985
Antenatal diagnosis of infantile Refsum's diseaseB T Poll-The, A Poulos, P Sharp, et al.
Journal of Inherited Metabolic Disease|October 14, 2000
Isolated and contiguous glycerol kinase gene disorders: a reviewD R Sjarif, J K Ploos van Amstel, M Duran, et al.
European Journal of Pediatrics|August 1, 1997
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus techniqueC Jakobs, J Kneer, D Martin, et al.
Biochimica Et Biophysica Acta|January 22, 2008
Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophyM Engelen, R Ofman, P A W Mooijer, et al.
Human Mutation|January 1, 1995
Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiencyT Fukao, X Q Song, S Yamaguchi, et al.
Journal of Medicinal Chemistry|August 20, 1993
Selective non-nucleoside HIV-1 reverse transcriptase inhibitors. New 2,3-dihydrothiazolo[2,3-a]isoindol-5(9bH)-ones and related compounds with anti-HIV-1 activityA Mertens, H Zilch, B König, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Formiminoglutamic/hydantoinpropionic aciduria in two siblingsM Duran, L Dorland, E E Meuleman, et al.
American Journal of Medical Genetics|March 10, 2001
Isolated glycerol kinase deficiency and Fanconi anemiaD R Sjarif, T Révész, T J de Koning, et al.
Virchows Archiv : an International Journal of Pathology|July 6, 2000
Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiencyI Kerckaert, B T Poll-The, M Espeel, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|June 19, 2001
Na+ transport in normal and CF human bronchial epithelial cells is inhibited by BAY 39-9437R J Bridges, B B Newton, J M Pilewski, et al.
Pageof 17