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

A Vilaseca

Showing results (81-90 of 133) with videos related to

Pageof 14
Sort By:
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.
European Journal of Pediatrics|March 1, 1990
Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patientA Ribes, P Briones, M A Vilaseca, et al.
Journal of Medical Genetics|March 24, 2009
Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaC Espinós, M Pineda, D Martínez-Rubio, 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.
Pageof 14

Showing results (81-90 of 133) with videos related to

Sort By:
Pageof 14
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.
European Journal of Pediatrics|March 1, 1990
Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patientA Ribes, P Briones, M A Vilaseca, et al.
Journal of Medical Genetics|March 24, 2009
Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaC Espinós, M Pineda, D Martínez-Rubio, 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.
Pageof 14