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Molecular Genetics and Metabolism
|
August 18, 2001
Valproate induces in vitro accumulation of long-chain fatty acylcarnitines
M F Silva, C Jakobs, M Duran, et al.
Journal of Lipid Research
|
November 28, 1997
Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver
N M Verhoeven, R J Wanders, D S Schor, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2018
Ultrastructural Morphology of the Optic Nerve Head in Aged and Glaucomatous Mice
Ying Zhu, Anthony C Pappas, Rui Wang, et al.
Journal of Inherited Metabolic Disease
|
March 14, 2009
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients
W V Wickenhagen, G S Salomons, K M Gibson, et al.
FEBS Letters
|
April 20, 2001
Increased alpha3-fucosylation of alpha(1)-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)
W Van Dijk, C Koeleman, B Van het Hof, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 1, 1978
Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts
M Duran, D Ketting, S K Wadman, et al.
Clinical Chemistry
|
September 1, 1993
Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening
H J ten Brink, C M van den Heuvel, E Christensen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
C G Costa, I T de Almeida, C Jakobs, et al.
Biochimica Et Biophysica Acta
|
May 8, 1992
Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liver
R J Wanders, S Denis, C W van Roermund, et al.
Journal of Inherited Metabolic Disease
|
November 20, 1998
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
N M Verhoeven, C Jakobs, H J ten Brink, et al.
Page
of 42
Search research articles
Search
Showing results (141-150 of 417) with videos related to
Sort By:
Page
of 42
Molecular Genetics and Metabolism
|
August 18, 2001
Valproate induces in vitro accumulation of long-chain fatty acylcarnitines
M F Silva, C Jakobs, M Duran, et al.
Journal of Lipid Research
|
November 28, 1997
Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver
N M Verhoeven, R J Wanders, D S Schor, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2018
Ultrastructural Morphology of the Optic Nerve Head in Aged and Glaucomatous Mice
Ying Zhu, Anthony C Pappas, Rui Wang, et al.
Journal of Inherited Metabolic Disease
|
March 14, 2009
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients
W V Wickenhagen, G S Salomons, K M Gibson, et al.
FEBS Letters
|
April 20, 2001
Increased alpha3-fucosylation of alpha(1)-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)
W Van Dijk, C Koeleman, B Van het Hof, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 1, 1978
Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts
M Duran, D Ketting, S K Wadman, et al.
Clinical Chemistry
|
September 1, 1993
Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening
H J ten Brink, C M van den Heuvel, E Christensen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
C G Costa, I T de Almeida, C Jakobs, et al.
Biochimica Et Biophysica Acta
|
May 8, 1992
Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liver
R J Wanders, S Denis, C W van Roermund, et al.
Journal of Inherited Metabolic Disease
|
November 20, 1998
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
N M Verhoeven, C Jakobs, H J ten Brink, et al.
Page
of 42