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M A Vilaseca

Showing results (81-90 of 118) with videos related to

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Anales Espanoles De Pediatria|February 1, 1990
[Sudden death of a patient with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency]M A Vilaseca Busca, A Ribes Rubio, P Briones Godino, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
Methylmalonic aciduria with homocystinuriaA Ribes, M A Vilaseca, P Briones, et al.
Clinical Chemistry|March 25, 1998
Selective screening for hyperhomocysteinemia in pediatric patientsM A Vilaseca, D Moyano, R Artuch, et al.
Developmental Medicine and Child Neurology|October 18, 2000
3-phosphoglycerate dehydrogenase deficiency in a patient with West syndromeM Pineda, M A Vilaseca, R Artuch, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 9, 2001
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial diseaseP Briones, M A Vilaseca, M T García-Silva, et al.
Human Mutation|September 30, 1999
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiencyC Climent, M A García-Pérez, P Sanjurjo, et al.
Journal of Inherited Metabolic Disease|September 16, 2003
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR geneM A Vilaseca, L Vilarinho, P Zavadakova, et al.
Molecular Genetics and Metabolism|November 16, 2001
Phenotype and genotype heterogeneity in Mediterranean citrullinemiaM A Vilaseca, K Kobayashi, P Briones, et al.
Revista De Neurologia|July 23, 2002
[Abnormal antioxidant system in inborn errors of intermediary metabolism]M A Vilaseca-Buscà, R Artuch-Iriberri, C Colomé-Mallolas, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autismP Póo-Argüelles, A Arias, M A Vilaseca, et al.
Pageof 12

Showing results (81-90 of 118) with videos related to

Sort By:
Pageof 12
Anales Espanoles De Pediatria|February 1, 1990
[Sudden death of a patient with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency]M A Vilaseca Busca, A Ribes Rubio, P Briones Godino, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
Methylmalonic aciduria with homocystinuriaA Ribes, M A Vilaseca, P Briones, et al.
Clinical Chemistry|March 25, 1998
Selective screening for hyperhomocysteinemia in pediatric patientsM A Vilaseca, D Moyano, R Artuch, et al.
Developmental Medicine and Child Neurology|October 18, 2000
3-phosphoglycerate dehydrogenase deficiency in a patient with West syndromeM Pineda, M A Vilaseca, R Artuch, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 9, 2001
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial diseaseP Briones, M A Vilaseca, M T García-Silva, et al.
Human Mutation|September 30, 1999
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiencyC Climent, M A García-Pérez, P Sanjurjo, et al.
Journal of Inherited Metabolic Disease|September 16, 2003
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR geneM A Vilaseca, L Vilarinho, P Zavadakova, et al.
Molecular Genetics and Metabolism|November 16, 2001
Phenotype and genotype heterogeneity in Mediterranean citrullinemiaM A Vilaseca, K Kobayashi, P Briones, et al.
Revista De Neurologia|July 23, 2002
[Abnormal antioxidant system in inborn errors of intermediary metabolism]M A Vilaseca-Buscà, R Artuch-Iriberri, C Colomé-Mallolas, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autismP Póo-Argüelles, A Arias, M A Vilaseca, et al.
Pageof 12