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Showing results (71-80 of 95) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1990
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiencyM J Bennett, P M Coates, D E Hale, et al.
Pediatric Research|November 14, 1997
Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidationT Kamijo, Y Indo, M Souri, et al.
Human Mutation|January 29, 2000
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiencyK Fujii, Y Matsubara, J Akanuma, et al.
Annals of Neurology|April 20, 2001
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screeningL Bezman, A B Moser, G V Raymond, et al.
Lancet (London, England)|December 14, 1991
New clinical phenotype of branched-chain acyl-CoA oxidation defectA Burlina, F Zacchello, C Dionisi-Vici, et al.
The Journal of Clinical Investigation|October 1, 1994
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal deathJ C Brackett, H F Sims, R D Steiner, et al.
The Journal of Clinical Investigation|June 8, 2001
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden deathJ A Ibdah, H Paul, Y Zhao, et al.
The New England Journal of Medicine|December 10, 1998
A defect in the transport of long-chain fatty acids associated with acute liver failureA A Odaib, B L Shneider, M J Bennett, et al.
The Journal of Biological Chemistry|January 10, 1998
Cloning and characterization of a novel peptidase from rat and human ileumB L Shneider, S Thevananther, M S Moyer, et al.
The Journal of Pediatrics|August 4, 1999
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutationS H Hahn, E H Lee, J W Jung, et al.
Pageof 10

Showing results (71-80 of 95) with videos related to

Sort By:
Pageof 10
Journal of Inherited Metabolic Disease|January 1, 1990
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiencyM J Bennett, P M Coates, D E Hale, et al.
Pediatric Research|November 14, 1997
Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidationT Kamijo, Y Indo, M Souri, et al.
Human Mutation|January 29, 2000
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiencyK Fujii, Y Matsubara, J Akanuma, et al.
Annals of Neurology|April 20, 2001
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screeningL Bezman, A B Moser, G V Raymond, et al.
Lancet (London, England)|December 14, 1991
New clinical phenotype of branched-chain acyl-CoA oxidation defectA Burlina, F Zacchello, C Dionisi-Vici, et al.
The Journal of Clinical Investigation|October 1, 1994
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal deathJ C Brackett, H F Sims, R D Steiner, et al.
The Journal of Clinical Investigation|June 8, 2001
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden deathJ A Ibdah, H Paul, Y Zhao, et al.
The New England Journal of Medicine|December 10, 1998
A defect in the transport of long-chain fatty acids associated with acute liver failureA A Odaib, B L Shneider, M J Bennett, et al.
The Journal of Biological Chemistry|January 10, 1998
Cloning and characterization of a novel peptidase from rat and human ileumB L Shneider, S Thevananther, M S Moyer, et al.
The Journal of Pediatrics|August 4, 1999
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutationS H Hahn, E H Lee, J W Jung, et al.
Pageof 10