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C Jakobs

Showing results (211-220 of 417) with videos related to

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Free Radical Biology & Medicine|January 1, 1991
Characterization of oxygen-resistant Chinese hamster ovary cells. III. Relative resistance of succinate and alpha-ketoglutarate dehydrogenases to hyperoxic inactivationW G Schoonen, A H Wanamarta, J M van der Klei-van Moorsel, et al.
Journal of Inherited Metabolic Disease|June 16, 2010
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathyE J Footitt, J Stafford, M Dixon, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 30, 2010
Novel mutations in pyridoxine-dependent epilepsyA Millet, G S Salomons, F Cneude, et al.
The Journal of Biological Chemistry|July 5, 1990
Respiratory failure and stimulation of glycolysis in Chinese hamster ovary cells exposed to normobaric hyperoxiaW G Schoonen, A H Wanamarta, J M van der Klei-van Moorsel, et al.
American Journal of Human Genetics|July 31, 1998
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)K L Chambliss, D D Hinson, F Trettel, et al.
European Journal of Pediatrics|August 1, 1998
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapyT Suormala, B Fowler, C Jakobs, et al.
Journal of Inherited Metabolic Disease|August 13, 1998
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiencyC G Costa, L Dorland, I T de Almeida, et al.
American Journal of Obstetrics and Gynecology|August 15, 1998
Effects of folic acid and vitamin B6 supplementation on women with hyperhomocysteinemia and a history of preeclampsia or fetal growth restrictionM Leeda, N Riyazi, J I de Vries, et al.
European Journal of Pediatrics|May 1, 1996
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?E Mayatepek, G F Hoffmann, R Baumgartner, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 30, 1987
Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentographyR M Kok, L Kaster, A P de Jong, et al.
Pageof 42

Showing results (211-220 of 417) with videos related to

Sort By:
Pageof 42
Free Radical Biology & Medicine|January 1, 1991
Characterization of oxygen-resistant Chinese hamster ovary cells. III. Relative resistance of succinate and alpha-ketoglutarate dehydrogenases to hyperoxic inactivationW G Schoonen, A H Wanamarta, J M van der Klei-van Moorsel, et al.
Journal of Inherited Metabolic Disease|June 16, 2010
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathyE J Footitt, J Stafford, M Dixon, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 30, 2010
Novel mutations in pyridoxine-dependent epilepsyA Millet, G S Salomons, F Cneude, et al.
The Journal of Biological Chemistry|July 5, 1990
Respiratory failure and stimulation of glycolysis in Chinese hamster ovary cells exposed to normobaric hyperoxiaW G Schoonen, A H Wanamarta, J M van der Klei-van Moorsel, et al.
American Journal of Human Genetics|July 31, 1998
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)K L Chambliss, D D Hinson, F Trettel, et al.
European Journal of Pediatrics|August 1, 1998
Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapyT Suormala, B Fowler, C Jakobs, et al.
Journal of Inherited Metabolic Disease|August 13, 1998
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiencyC G Costa, L Dorland, I T de Almeida, et al.
American Journal of Obstetrics and Gynecology|August 15, 1998
Effects of folic acid and vitamin B6 supplementation on women with hyperhomocysteinemia and a history of preeclampsia or fetal growth restrictionM Leeda, N Riyazi, J I de Vries, et al.
European Journal of Pediatrics|May 1, 1996
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?E Mayatepek, G F Hoffmann, R Baumgartner, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 30, 1987
Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentographyR M Kok, L Kaster, A P de Jong, et al.
Pageof 42