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Journal of Inherited Metabolic Disease
|
July 10, 1999
NTBC as palliative treatment in chronic tyrosinaemia type I
J Ros, M A Vilaseca, N Lambruschini, et al.
Molecular Genetics and Metabolism
|
June 5, 1999
Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes
J Mallolas, M Milà, N Lambruschini, et al.
The American Journal of Clinical Nutrition
|
October 28, 1999
Decreased serum ubiquinone-10 concentrations in phenylketonuria
R Artuch, M A Vilaseca, J Moreno, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
February 20, 2004
Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?
R Gassió, J Campistol, M A Vilaseca, et al.
Molecular Genetics and Metabolism
|
February 4, 2010
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin
R Gassió, M A Vilaseca, N Lambruschini, et al.
Revista De Neurologia
|
March 30, 2005
[Inborn errors of metabolism with neurological symptomathology in the neonatal period]
J Campistol, I Málaga-Diéguez, A García-Cazorla, et al.
Revista De Neurologia
|
June 1, 2005
[Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12]
G Gutiérrez-Aguilar, P Abenia-Usón, A García-Cazorla, et al.
Journal of Inherited Metabolic Disease
|
January 14, 1998
Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency
M A García-Pérez, C Climent, P Briones, et al.
Revista De Neurologia
|
October 25, 2006
[Orientation of mental retardation from neurometabolic diseases]
A García-Cazorla, B Pérez-Dueñas, M Pineda, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 12, 2009
Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism
I Marín-Valencia, M A Vilaseca, M Thió, et al.
Page
of 12
Search research articles
Search
Showing results (31-40 of 118) with videos related to
Sort By:
Page
of 12
Journal of Inherited Metabolic Disease
|
July 10, 1999
NTBC as palliative treatment in chronic tyrosinaemia type I
J Ros, M A Vilaseca, N Lambruschini, et al.
Molecular Genetics and Metabolism
|
June 5, 1999
Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes
J Mallolas, M Milà, N Lambruschini, et al.
The American Journal of Clinical Nutrition
|
October 28, 1999
Decreased serum ubiquinone-10 concentrations in phenylketonuria
R Artuch, M A Vilaseca, J Moreno, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
February 20, 2004
Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?
R Gassió, J Campistol, M A Vilaseca, et al.
Molecular Genetics and Metabolism
|
February 4, 2010
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin
R Gassió, M A Vilaseca, N Lambruschini, et al.
Revista De Neurologia
|
March 30, 2005
[Inborn errors of metabolism with neurological symptomathology in the neonatal period]
J Campistol, I Málaga-Diéguez, A García-Cazorla, et al.
Revista De Neurologia
|
June 1, 2005
[Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12]
G Gutiérrez-Aguilar, P Abenia-Usón, A García-Cazorla, et al.
Journal of Inherited Metabolic Disease
|
January 14, 1998
Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency
M A García-Pérez, C Climent, P Briones, et al.
Revista De Neurologia
|
October 25, 2006
[Orientation of mental retardation from neurometabolic diseases]
A García-Cazorla, B Pérez-Dueñas, M Pineda, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
June 12, 2009
Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism
I Marín-Valencia, M A Vilaseca, M Thió, et al.
Page
of 12