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Journal of Inherited Metabolic Disease
|
January 1, 1993
Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasma
H J ten Brink, C M van den Heuvel, B T Poll-The, et al.
QJM : Monthly Journal of the Association of Physicians
|
March 26, 2003
5,10-Methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations are genetic determinants of elevated homocysteine
R Castro, I Rivera, P Ravasco, et al.
Brain & Development
|
November 6, 2007
L-2-Hydroxyglutaric aciduria presenting with severe autistic features
D I Zafeiriou, A Ververi, G S Salomons, et al.
Biochimica Et Biophysica Acta
|
February 16, 2007
Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations
G Barcelo-Coblijn, E J Murphy, K Mills, et al.
Neuropediatrics
|
August 1, 1990
Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency
T J de Grauw, L M Smit, M Brockstedt, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death
E Chen, W L Nyhan, C Jakobs, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome
M S van der Knaap, R A Wevers, L Monnens, et al.
Biomedical & Environmental Mass Spectrometry
|
February 1, 1990
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria
K M Gibson, S Aramaki, L Sweetman, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
L-2-hydroxyglutaric aciduria and lactic acidosis
P G Barth, R J Wanders, H R Scholte, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 5, 1998
Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors
S Kubo, M Sun, M Miyahara, et al.
Page
of 42
Search research articles
Search
Showing results (241-250 of 417) with videos related to
Sort By:
Page
of 42
Journal of Inherited Metabolic Disease
|
January 1, 1993
Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasma
H J ten Brink, C M van den Heuvel, B T Poll-The, et al.
QJM : Monthly Journal of the Association of Physicians
|
March 26, 2003
5,10-Methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations are genetic determinants of elevated homocysteine
R Castro, I Rivera, P Ravasco, et al.
Brain & Development
|
November 6, 2007
L-2-Hydroxyglutaric aciduria presenting with severe autistic features
D I Zafeiriou, A Ververi, G S Salomons, et al.
Biochimica Et Biophysica Acta
|
February 16, 2007
Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations
G Barcelo-Coblijn, E J Murphy, K Mills, et al.
Neuropediatrics
|
August 1, 1990
Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency
T J de Grauw, L M Smit, M Brockstedt, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death
E Chen, W L Nyhan, C Jakobs, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome
M S van der Knaap, R A Wevers, L Monnens, et al.
Biomedical & Environmental Mass Spectrometry
|
February 1, 1990
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria
K M Gibson, S Aramaki, L Sweetman, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
L-2-hydroxyglutaric aciduria and lactic acidosis
P G Barth, R J Wanders, H R Scholte, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 5, 1998
Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors
S Kubo, M Sun, M Miyahara, et al.
Page
of 42