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C Jakobs

Showing results (151-160 of 417) with videos related to

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The Journal of Pediatrics|January 1, 1995
Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcomeO N Elpeleg, W Ruitenbeek, C Jakobs, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acidP Divry, C Vianey-Liaud, C Jakobs, et al.
European Journal of Pediatrics|May 1, 1988
Elevated plasma galactitol levels in patients with congenital cataracts without apparent enzyme defectC Jakobs, A C Douwes, R Kok, et al.
Pediatric Research|October 6, 1999
Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in childrenC C Costa, I T de Almeida, C Jakobs, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidneyK L Chambliss, C F Lee, H Ogier, et al.
European Journal of Pediatrics|January 1, 1984
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluidC Jakobs, L Sweetman, S K Wadman, et al.
Journal of Mass Spectrometry : JMS|June 1, 1996
3-, 6- and 7-hydroxyoctanoic acids are metabolites of medium-chain triglycerides and excreted in urine as glucuronidesC C Costa, L Dorland, M Kroon, et al.
Journal of Inherited Metabolic Disease|April 26, 2007
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacologyI Knerr, P L Pearl, T Bottiglieri, et al.
Plos One|December 5, 2015
Synapse Loss and Dendrite Remodeling in a Mouse Model of GlaucomaRyan H Berry, Juan Qu, Simon W M John, et al.
Experimental Eye Research|November 20, 2022
Viability of mitochondria-labeled retinal ganglion cells in organotypic retinal explant cultures by two methodsBaoqi Hu, Yaoyao Huang, Tatjana C Jakobs, et al.
Pageof 42

Showing results (151-160 of 417) with videos related to

Sort By:
Pageof 42
The Journal of Pediatrics|January 1, 1995
Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcomeO N Elpeleg, W Ruitenbeek, C Jakobs, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acidP Divry, C Vianey-Liaud, C Jakobs, et al.
European Journal of Pediatrics|May 1, 1988
Elevated plasma galactitol levels in patients with congenital cataracts without apparent enzyme defectC Jakobs, A C Douwes, R Kok, et al.
Pediatric Research|October 6, 1999
Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in childrenC C Costa, I T de Almeida, C Jakobs, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidneyK L Chambliss, C F Lee, H Ogier, et al.
European Journal of Pediatrics|January 1, 1984
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluidC Jakobs, L Sweetman, S K Wadman, et al.
Journal of Mass Spectrometry : JMS|June 1, 1996
3-, 6- and 7-hydroxyoctanoic acids are metabolites of medium-chain triglycerides and excreted in urine as glucuronidesC C Costa, L Dorland, M Kroon, et al.
Journal of Inherited Metabolic Disease|April 26, 2007
Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacologyI Knerr, P L Pearl, T Bottiglieri, et al.
Plos One|December 5, 2015
Synapse Loss and Dendrite Remodeling in a Mouse Model of GlaucomaRyan H Berry, Juan Qu, Simon W M John, et al.
Experimental Eye Research|November 20, 2022
Viability of mitochondria-labeled retinal ganglion cells in organotypic retinal explant cultures by two methodsBaoqi Hu, Yaoyao Huang, Tatjana C Jakobs, et al.
Pageof 42