Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

B T Poll-The

Showing results (21-30 of 127) with videos related to

Pageof 13
Sort By:
Human Genetics|January 1, 1989
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disordersB T Poll-The, O H Skjeldal, O Stokke, et al.
Biology of the Neonate|January 1, 1990
Clinical approach to inherited metabolic disorders in neonatesJ M Saudubray, C Narcy, L Lyonnet, et al.
Annales De Pediatrie|April 1, 1989
[Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings]H Sarda, V Henry, H Le Loc'h, et al.
Journal of Inherited Metabolic Disease|August 2, 2003
The eye as a window to inborn errors of metabolismB T Poll-The, L J Maillette de Buy Wenniger-Prick, P G Barth, et al.
European Journal of Pediatrics|January 1, 1992
Metabolic pigmentary retinopathies: diagnosis and therapeutic attemptsB T Poll-The, T Billette de Villemeur, M Abitbol, et al.
The Journal of Clinical Investigation|August 1, 1994
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophyB Fournier, J M Saudubray, B Benichou, et al.
Journal of Inherited Metabolic Disease|August 13, 1998
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiencyC G Costa, L Dorland, I T de Almeida, et al.
Nederlands Tijdschrift Voor Geneeskunde|February 9, 2000
[Phenylketonuria: a children's disease in adulthood]H W de Valk, L M de Sonneville, M Duran, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase geneS M Houten, J Frenkel, W Kuis, et al.
American Journal of Medical Genetics|October 1, 1986
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 casesF Roels, A Cornelis, B T Poll-The, et al.
Pageof 13

Showing results (21-30 of 127) with videos related to

Sort By:
Pageof 13
Human Genetics|January 1, 1989
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disordersB T Poll-The, O H Skjeldal, O Stokke, et al.
Biology of the Neonate|January 1, 1990
Clinical approach to inherited metabolic disorders in neonatesJ M Saudubray, C Narcy, L Lyonnet, et al.
Annales De Pediatrie|April 1, 1989
[Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings]H Sarda, V Henry, H Le Loc'h, et al.
Journal of Inherited Metabolic Disease|August 2, 2003
The eye as a window to inborn errors of metabolismB T Poll-The, L J Maillette de Buy Wenniger-Prick, P G Barth, et al.
European Journal of Pediatrics|January 1, 1992
Metabolic pigmentary retinopathies: diagnosis and therapeutic attemptsB T Poll-The, T Billette de Villemeur, M Abitbol, et al.
The Journal of Clinical Investigation|August 1, 1994
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophyB Fournier, J M Saudubray, B Benichou, et al.
Journal of Inherited Metabolic Disease|August 13, 1998
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiencyC G Costa, L Dorland, I T de Almeida, et al.
Nederlands Tijdschrift Voor Geneeskunde|February 9, 2000
[Phenylketonuria: a children's disease in adulthood]H W de Valk, L M de Sonneville, M Duran, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase geneS M Houten, J Frenkel, W Kuis, et al.
American Journal of Medical Genetics|October 1, 1986
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 casesF Roels, A Cornelis, B T Poll-The, et al.
Pageof 13