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C Jakobs

Showing results (341-350 of 417) with videos related to

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Journal of Inherited Metabolic Disease|July 1, 1997
Nerve cell lesions caused by 3-hydroxyglutaric acid: a possible mechanism for neurodegeneration in glutaric acidaemia IB Flott-Rahmel, C Falter, P Schluff, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric aciduria: two further casesP Divry, C Jakobs, C Vianey-Saban, et al.
Kidney International|September 1, 1999
Homocysteine and methionine metabolism in ESRD: A stable isotope studyC van Guldener, W Kulik, R Berger, et al.
American Journal of Human Genetics|April 3, 2001
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathwayN M Verhoeven, J H Huck, B Roos, et al.
Annals of Neurology|April 13, 2000
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defectM S van der Knaap, N M Verhoeven, P Maaswinkel-Mooij, et al.
Ideggyogyaszati Szemle|September 4, 2010
Clinical, radiological and genetic aspects of leukodystrophiesA László, On Elpeleg, K Horváth, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenaseP G Barth, G F Hoffmann, J Jaeken, et al.
The Journal of Biological Chemistry|September 26, 1997
Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathwayF Endo, S Kubo, H Awata, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiencyK M Gibson, C Jakobs, H Ogier, et al.
Pageof 42

Showing results (341-350 of 417) with videos related to

Sort By:
Pageof 42
Journal of Inherited Metabolic Disease|July 1, 1997
Nerve cell lesions caused by 3-hydroxyglutaric acid: a possible mechanism for neurodegeneration in glutaric acidaemia IB Flott-Rahmel, C Falter, P Schluff, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric aciduria: two further casesP Divry, C Jakobs, C Vianey-Saban, et al.
Kidney International|September 1, 1999
Homocysteine and methionine metabolism in ESRD: A stable isotope studyC van Guldener, W Kulik, R Berger, et al.
American Journal of Human Genetics|April 3, 2001
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathwayN M Verhoeven, J H Huck, B Roos, et al.
Annals of Neurology|April 13, 2000
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defectM S van der Knaap, N M Verhoeven, P Maaswinkel-Mooij, et al.
Ideggyogyaszati Szemle|September 4, 2010
Clinical, radiological and genetic aspects of leukodystrophiesA László, On Elpeleg, K Horváth, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenaseP G Barth, G F Hoffmann, J Jaeken, et al.
The Journal of Biological Chemistry|September 26, 1997
Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathwayF Endo, S Kubo, H Awata, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiencyK M Gibson, C Jakobs, H Ogier, et al.
Pageof 42