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B T Poll-The

Showing results (31-40 of 127) 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 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.
Journal of Inherited Metabolic Disease|January 1, 1993
Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasmaH J ten Brink, C M van den Heuvel, B T Poll-The, et al.
Scandinavian Journal of Clinical and Laboratory Investigation|December 1, 1985
Absence of hepatic peroxisomes in a case of infantile Refsum's diseaseH Ogier, F Roels, A Cornelis, et al.
Pageof 13

Showing results (31-40 of 127) with videos related to

Sort By:
Pageof 13
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 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.
Journal of Inherited Metabolic Disease|January 1, 1993
Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasmaH J ten Brink, C M van den Heuvel, B T Poll-The, et al.
Scandinavian Journal of Clinical and Laboratory Investigation|December 1, 1985
Absence of hepatic peroxisomes in a case of infantile Refsum's diseaseH Ogier, F Roels, A Cornelis, et al.
Pageof 13