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

C Jakobs

Showing results (191-200 of 417) with videos related to

Pageof 42
Sort By:
Advances in Experimental Medicine and Biology|March 10, 2000
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum diseaseG A Jansen, S Ferdinandusse, E M Hogenhout, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
Prenatal diagnosis of Canavan disease--problems and dilemmasG T Besley, O N Elpeleg, A Shaag, et al.
Kidney International|July 2, 1998
No net renal extraction of homocysteine in fasting humansC van Guldener, A J Donker, C Jakobs, et al.
Neuropediatrics|March 19, 2009
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindnessG Kluger, R Blank, K Paul, et al.
Molecular Genetics and Metabolism|October 27, 1998
Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensationC R Roe, E Struys, R M Kok, et al.
The Journal of Pediatrics|December 1, 1990
Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemiaS B van der Meer, L J Spaapen, B Fowler, et al.
Prenatal Diagnosis|June 1, 1995
Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimestersW J Kleijer, M van der Kraan, J G Huijmans, et al.
Thyroid : Official Journal of the American Thyroid Association|December 16, 1998
Reverse transcriptase-polymerase chain reaction analysis of thyrocyte-relevant genes in fine-needle aspiration biopsies of the human thyroidR Winzer, C Schmutzler, T C Jakobs, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|December 16, 1998
Serum homocysteine and risk of coronary heart disease and cerebrovascular disease in elderly men: a 10-year follow-upC D Stehouwer, M P Weijenberg, M van den Berg, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Leukocytes as a diagnostic tool for classical galactosaemiaJ M van der Klei-van Moorsel, M Brockstedt, J F Samsom, et al.
Pageof 42

Showing results (191-200 of 417) with videos related to

Sort By:
Pageof 42
Advances in Experimental Medicine and Biology|March 10, 2000
Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum diseaseG A Jansen, S Ferdinandusse, E M Hogenhout, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
Prenatal diagnosis of Canavan disease--problems and dilemmasG T Besley, O N Elpeleg, A Shaag, et al.
Kidney International|July 2, 1998
No net renal extraction of homocysteine in fasting humansC van Guldener, A J Donker, C Jakobs, et al.
Neuropediatrics|March 19, 2009
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindnessG Kluger, R Blank, K Paul, et al.
Molecular Genetics and Metabolism|October 27, 1998
Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensationC R Roe, E Struys, R M Kok, et al.
The Journal of Pediatrics|December 1, 1990
Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemiaS B van der Meer, L J Spaapen, B Fowler, et al.
Prenatal Diagnosis|June 1, 1995
Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimestersW J Kleijer, M van der Kraan, J G Huijmans, et al.
Thyroid : Official Journal of the American Thyroid Association|December 16, 1998
Reverse transcriptase-polymerase chain reaction analysis of thyrocyte-relevant genes in fine-needle aspiration biopsies of the human thyroidR Winzer, C Schmutzler, T C Jakobs, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|December 16, 1998
Serum homocysteine and risk of coronary heart disease and cerebrovascular disease in elderly men: a 10-year follow-upC D Stehouwer, M P Weijenberg, M van den Berg, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Leukocytes as a diagnostic tool for classical galactosaemiaJ M van der Klei-van Moorsel, M Brockstedt, J F Samsom, et al.
Pageof 42