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Showing results (51-60 of 127) with videos related to

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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.
Journal of Inherited Metabolic Disease|January 1, 1991
A new type of chondrodysplasia punctata associated with peroxisomal dysfunctionB T Poll-The, P Maroteaux, C Narcy, et al.
Clinical Genetics|September 1, 2017
Development and validation of a severity scoring system for Zellweger spectrum disordersF C C Klouwer, A Meester-Delver, F M Vaz, et al.
Pageof 13

Showing results (51-60 of 127) with videos related to

Sort By:
Pageof 13
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.
Journal of Inherited Metabolic Disease|January 1, 1991
A new type of chondrodysplasia punctata associated with peroxisomal dysfunctionB T Poll-The, P Maroteaux, C Narcy, et al.
Clinical Genetics|September 1, 2017
Development and validation of a severity scoring system for Zellweger spectrum disordersF C C Klouwer, A Meester-Delver, F M Vaz, et al.
Pageof 13