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Journal of Child Neurology
|
April 16, 2002
Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets
Marco A Gudiño, Jaume Campistol, Beatriz Chavez, 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.
European Journal of Clinical Nutrition
|
July 25, 2003
Plasma thiols and their determinants in phenylketonuria
C Colomé, R Artuch, C Sierra, et al.
Pediatric Emergency Care
|
January 4, 2001
Diagnostic approach to inborn errors of metabolism in an emergency unit
M Calvo, R Artuch, E Macià, et al.
Brain & Development
|
December 12, 2001
Oxidative stress in Rett syndrome
C Sierra, M A Vilaseca, N Brandi, et al.
Journal of Child Neurology
|
June 1, 2000
Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status
E Cardo, E Monrós, C Colomé, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Controlled diet in phenylketonuria may cause serum carnitine deficiency
M A Vilaseca, P Briones, I Ferrer, et al.
Human Mutation
|
April 13, 1999
Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online
J Mallolas, J Campistol, N Lambruschini, et al.
Page
of 14
Search research articles
Search
Showing results (31-40 of 133) with videos related to
Sort By:
Page
of 14
Journal of Child Neurology
|
April 16, 2002
Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets
Marco A Gudiño, Jaume Campistol, Beatriz Chavez, 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.
European Journal of Clinical Nutrition
|
July 25, 2003
Plasma thiols and their determinants in phenylketonuria
C Colomé, R Artuch, C Sierra, et al.
Pediatric Emergency Care
|
January 4, 2001
Diagnostic approach to inborn errors of metabolism in an emergency unit
M Calvo, R Artuch, E Macià, et al.
Brain & Development
|
December 12, 2001
Oxidative stress in Rett syndrome
C Sierra, M A Vilaseca, N Brandi, et al.
Journal of Child Neurology
|
June 1, 2000
Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status
E Cardo, E Monrós, C Colomé, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Controlled diet in phenylketonuria may cause serum carnitine deficiency
M A Vilaseca, P Briones, I Ferrer, et al.
Human Mutation
|
April 13, 1999
Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online
J Mallolas, J Campistol, N Lambruschini, et al.
Page
of 14