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

T Poll

Showing results (71-80 of 169) with videos related to

Pageof 17
Sort By:
Pediatric Research|November 1, 1994
Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiencyA J Bergman, R A Donckerwolcke, M Duran, et al.
Journal of Inherited Metabolic Disease|December 16, 2000
Hyperketonaemia in glycerol kinase deficiencyD R Sjarif, L Dorland, W Sperl, et al.
Neuropediatrics|August 18, 2001
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiencyT J de Koning, J Jaeken, M Pineda, et al.
Molecular Genetics and Metabolism Reports|March 26, 2016
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutationB Jaeger, N G Abeling, G S Salomons, et al.
Nederlands Tijdschrift Voor Geneeskunde|June 15, 2007
[Lactic acidosis and accumulation of glutamate in the blood of neonates following treatment with calcium levulinate for hypocalcaemia]M Williams, J G M Huijmans, M Duran, et al.
European Journal of Pediatrics|March 29, 2001
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcomeE Lopriore, R J Gemke, N M Verhoeven, et al.
Journal of Inherited Metabolic Disease|July 18, 2002
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acidsT J De Koning, M Duran, L Van Maldergem, et al.
Journal of Inherited Metabolic Disease|July 1, 1997
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretionE Christensen, A Ribes, C Busquets, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Diagnostic work-up of a peroxisomal patientJ G Leroy, M Espeel, J F Gadisseux, et al.
Pediatric Research|September 1, 1996
Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerationsA J Bergman, M S Van der Knaap, J A Smeitink, et al.
Pageof 17

Showing results (71-80 of 169) with videos related to

Sort By:
Pageof 17
Pediatric Research|November 1, 1994
Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiencyA J Bergman, R A Donckerwolcke, M Duran, et al.
Journal of Inherited Metabolic Disease|December 16, 2000
Hyperketonaemia in glycerol kinase deficiencyD R Sjarif, L Dorland, W Sperl, et al.
Neuropediatrics|August 18, 2001
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiencyT J de Koning, J Jaeken, M Pineda, et al.
Molecular Genetics and Metabolism Reports|March 26, 2016
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutationB Jaeger, N G Abeling, G S Salomons, et al.
Nederlands Tijdschrift Voor Geneeskunde|June 15, 2007
[Lactic acidosis and accumulation of glutamate in the blood of neonates following treatment with calcium levulinate for hypocalcaemia]M Williams, J G M Huijmans, M Duran, et al.
European Journal of Pediatrics|March 29, 2001
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcomeE Lopriore, R J Gemke, N M Verhoeven, et al.
Journal of Inherited Metabolic Disease|July 18, 2002
Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acidsT J De Koning, M Duran, L Van Maldergem, et al.
Journal of Inherited Metabolic Disease|July 1, 1997
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretionE Christensen, A Ribes, C Busquets, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Diagnostic work-up of a peroxisomal patientJ G Leroy, M Espeel, J F Gadisseux, et al.
Pediatric Research|September 1, 1996
Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerationsA J Bergman, M S Van der Knaap, J A Smeitink, et al.
Pageof 17