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C Jakobs

Showing results (391-400 of 417) with videos related to

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Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Nature Genetics|September 7, 2001
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenaseB M Hogema, M Gupta, H Senephansiri, et al.
Eneuro|August 7, 2024
Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: <i>Atp1a</i>3<sup>tm1Ling/+</sup> and <i>Atp1a3</i> <sup>+/D801Y</sup>Yi Bessie Liu, Elena Arystarkhova, Amanda N Sacino, et al.
Neuropediatrics|May 6, 2011
N-acetylaspartylglutamate in CNS hypomyelinationM M C Wamelink, E Struys, U Holwerda, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
D-2-hydroxyglutaric aciduria: further clinical delineationM S van der Knaap, C Jakobs, G F Hoffmann, et al.
Journal of Neurochemistry|June 18, 2002
Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenaseK M Gibson, D S M Schor, M Gupta, et al.
European Journal of Clinical Investigation|December 21, 2002
S-adenosylhomocysteine and the ratio of S-adenosylmethionine to S-adenosylhomocysteine are not related to folate, cobalamin and vitamin B6 concentrationsA Becker, Y M Smulders, T Teerlink, et al.
Atherosclerosis|August 19, 2003
Plasma homocysteine and S-adenosylmethionine in erythrocytes as determinants of carotid intima-media thickness: different effects in diabetic and non-diabetic individuals. The Hoorn StudyA Becker, R M A Henry, P J Kostense, et al.
Neurology|March 1, 2006
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cordM S van der Knaap, V Ramesh, R Schiffmann, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch familiesG M S Mancini, C E Catsman-Berrevoets, I F M de Coo, et al.
Pageof 42

Showing results (391-400 of 417) with videos related to

Sort By:
Pageof 42
Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Nature Genetics|September 7, 2001
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenaseB M Hogema, M Gupta, H Senephansiri, et al.
Eneuro|August 7, 2024
Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: <i>Atp1a</i>3<sup>tm1Ling/+</sup> and <i>Atp1a3</i> <sup>+/D801Y</sup>Yi Bessie Liu, Elena Arystarkhova, Amanda N Sacino, et al.
Neuropediatrics|May 6, 2011
N-acetylaspartylglutamate in CNS hypomyelinationM M C Wamelink, E Struys, U Holwerda, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
D-2-hydroxyglutaric aciduria: further clinical delineationM S van der Knaap, C Jakobs, G F Hoffmann, et al.
Journal of Neurochemistry|June 18, 2002
Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenaseK M Gibson, D S M Schor, M Gupta, et al.
European Journal of Clinical Investigation|December 21, 2002
S-adenosylhomocysteine and the ratio of S-adenosylmethionine to S-adenosylhomocysteine are not related to folate, cobalamin and vitamin B6 concentrationsA Becker, Y M Smulders, T Teerlink, et al.
Atherosclerosis|August 19, 2003
Plasma homocysteine and S-adenosylmethionine in erythrocytes as determinants of carotid intima-media thickness: different effects in diabetic and non-diabetic individuals. The Hoorn StudyA Becker, R M A Henry, P J Kostense, et al.
Neurology|March 1, 2006
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cordM S van der Knaap, V Ramesh, R Schiffmann, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch familiesG M S Mancini, C E Catsman-Berrevoets, I F M de Coo, et al.
Pageof 42