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P Briones

Showing results (41-50 of 65) with videos related to

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Journal of Inherited Metabolic Disease|October 17, 2006
Mutational spectrum of classical galactosaemia in Spain and PortugalL Gort, M D Boleda, L Tyfield, et al.
Anales Espanoles De Pediatria|January 1, 1988
[Argininosuccinic aciduria. Comparative studies and detection of carriers in 3 affected families]P Briones Godino, M Rodes Monegal, M A Vilaseca Busca, et al.
European Journal of Pediatrics|May 14, 1998
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiencyA Ribes, E Riudor, B Garavaglia, et al.
Human Genetics|April 6, 1999
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiencyY Aoki, X Li, O Sakamoto, et al.
Pediatric Neurology|April 1, 1996
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyR Pons, M Roig, E Riudor, et al.
Biofactors (Oxford, England)|July 29, 2006
Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disordersR Montero, R Artuch, P Briones, et al.
Journal of Inherited Metabolic Disease|September 22, 2009
Secondary disorders of glycosylation in inborn errors of fructose metabolismE Quintana, L Sturiale, R Montero, et al.
Cerebellum (London, England)|October 21, 2011
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia)M Casado, M M O'Callaghan, R Montero, et al.
Clinical Genetics|December 17, 2009
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiencyE Quintana, L Gort, C Busquets, et al.
JIMD Reports|February 23, 2013
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsB Pérez, P Briones, D Quelhas, et al.
Pageof 7

Showing results (41-50 of 65) with videos related to

Sort By:
Pageof 7
Journal of Inherited Metabolic Disease|October 17, 2006
Mutational spectrum of classical galactosaemia in Spain and PortugalL Gort, M D Boleda, L Tyfield, et al.
Anales Espanoles De Pediatria|January 1, 1988
[Argininosuccinic aciduria. Comparative studies and detection of carriers in 3 affected families]P Briones Godino, M Rodes Monegal, M A Vilaseca Busca, et al.
European Journal of Pediatrics|May 14, 1998
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiencyA Ribes, E Riudor, B Garavaglia, et al.
Human Genetics|April 6, 1999
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiencyY Aoki, X Li, O Sakamoto, et al.
Pediatric Neurology|April 1, 1996
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyR Pons, M Roig, E Riudor, et al.
Biofactors (Oxford, England)|July 29, 2006
Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disordersR Montero, R Artuch, P Briones, et al.
Journal of Inherited Metabolic Disease|September 22, 2009
Secondary disorders of glycosylation in inborn errors of fructose metabolismE Quintana, L Sturiale, R Montero, et al.
Cerebellum (London, England)|October 21, 2011
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia)M Casado, M M O'Callaghan, R Montero, et al.
Clinical Genetics|December 17, 2009
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiencyE Quintana, L Gort, C Busquets, et al.
JIMD Reports|February 23, 2013
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsB Pérez, P Briones, D Quelhas, et al.
Pageof 7