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Neuropediatrics
|
July 13, 2004
Clinical presentations of patients with polyol abnormalities
J H J Huck, N M Verhoeven, J M van Hagen, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias
E A Struys, N M Verhoeven, H J Ten Brink, et al.
Cardiovascular Research
|
March 17, 2004
Inhibition of the pentose phosphate pathway decreases ischemia-reperfusion-induced creatine kinase release in the heart
C J Zuurbier, O Eerbeek, P T Goedhart, et al.
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
|
April 4, 2006
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
F J van Spronsen, D J Reijngoud, N M Verhoeven, et al.
Biochimica Et Biophysica Acta
|
October 16, 1999
Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes
G A Jansen, N M Verhoeven, S Denis, et al.
Journal of Inherited Metabolic Disease
|
February 24, 2001
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall
N M Verhoeven, W S Guérand, E A Struys, et al.
Orphanet Journal of Rare Diseases
|
March 8, 2020
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach
H A Haijes, J J M Jans, M van der Ham, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
January 27, 1999
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
E A Struys, E E Jansen, H J ten Brink, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2011
In response to "Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS" by van den Bosch et al
M Albersen, M van der Ham, N M Verhoeven-Duif, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 63) with videos related to
Sort By:
Page
of 7
Neuropediatrics
|
July 13, 2004
Clinical presentations of patients with polyol abnormalities
J H J Huck, N M Verhoeven, J M van Hagen, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias
E A Struys, N M Verhoeven, H J Ten Brink, et al.
Cardiovascular Research
|
March 17, 2004
Inhibition of the pentose phosphate pathway decreases ischemia-reperfusion-induced creatine kinase release in the heart
C J Zuurbier, O Eerbeek, P T Goedhart, et al.
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
|
April 4, 2006
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
F J van Spronsen, D J Reijngoud, N M Verhoeven, et al.
Biochimica Et Biophysica Acta
|
October 16, 1999
Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes
G A Jansen, N M Verhoeven, S Denis, et al.
Journal of Inherited Metabolic Disease
|
February 24, 2001
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall
N M Verhoeven, W S Guérand, E A Struys, et al.
Orphanet Journal of Rare Diseases
|
March 8, 2020
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach
H A Haijes, J J M Jans, M van der Ham, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
January 27, 1999
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
E A Struys, E E Jansen, H J ten Brink, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2011
In response to "Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS" by van den Bosch et al
M Albersen, M van der Ham, N M Verhoeven-Duif, et al.
Page
of 7