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Molecular Genetics and Metabolism
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August 11, 2006
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
L S Almeida, E H Rosenberg, C Martinez-Muñoz, et al.
Molecular Genetics and Metabolism
|
March 6, 2007
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal
L S Almeida, L Vilarinho, P S Darmin, et al.
Brain & Development
|
June 1, 1997
L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients
C Barbot, I Fineza, L Diogo, et al.
Journal of Inherited Metabolic Disease
|
May 9, 2000
Multiple mtDNA deletions: clinical and molecular correlations
F M Santorelli, G De Joanna, C Casali, et al.
Molecular Genetics and Metabolism
|
August 17, 2004
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
M L Cardoso, M R Rodrigues, E Leão, 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 gene
M A Vilaseca, L Vilarinho, P Zavadakova, et al.
Journal of Inherited Metabolic Disease
|
October 17, 2006
Mutational spectrum of classical galactosaemia in Spain and Portugal
L Gort, M D Boleda, L Tyfield, et al.
The Journal of Biological Chemistry
|
May 25, 1991
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria
C Caillaud, S Lyonnet, F Rey, et al.
Human Genetics
|
April 1, 1992
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal
C Caillaud, L Vilarinho, A Vilarinho, et al.
Journal of the Neurological Sciences
|
June 17, 1999
The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families
L Vilarinho, F M Santorelli, I Coelho, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 42) with videos related to
Sort By:
Page
of 5
Molecular Genetics and Metabolism
|
August 11, 2006
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
L S Almeida, E H Rosenberg, C Martinez-Muñoz, et al.
Molecular Genetics and Metabolism
|
March 6, 2007
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal
L S Almeida, L Vilarinho, P S Darmin, et al.
Brain & Development
|
June 1, 1997
L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients
C Barbot, I Fineza, L Diogo, et al.
Journal of Inherited Metabolic Disease
|
May 9, 2000
Multiple mtDNA deletions: clinical and molecular correlations
F M Santorelli, G De Joanna, C Casali, et al.
Molecular Genetics and Metabolism
|
August 17, 2004
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
M L Cardoso, M R Rodrigues, E Leão, 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 gene
M A Vilaseca, L Vilarinho, P Zavadakova, et al.
Journal of Inherited Metabolic Disease
|
October 17, 2006
Mutational spectrum of classical galactosaemia in Spain and Portugal
L Gort, M D Boleda, L Tyfield, et al.
The Journal of Biological Chemistry
|
May 25, 1991
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria
C Caillaud, S Lyonnet, F Rey, et al.
Human Genetics
|
April 1, 1992
Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal
C Caillaud, L Vilarinho, A Vilarinho, et al.
Journal of the Neurological Sciences
|
June 17, 1999
The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families
L Vilarinho, F M Santorelli, I Coelho, et al.
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of 5