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C Jakobs

Showing results (221-230 of 417) with videos related to

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Prenatal Diagnosis|November 1, 1988
Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemiaC Jakobs, W J Kleijer, H D Bakker, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 15, 1991
4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblastsK M Gibson, C F Lee, K L Chambliss, et al.
European Journal of Pediatrics|February 1, 1991
The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiencyC Jakobs, F Stellaard, L M Smit, et al.
European Journal of Pediatrics|August 1, 1997
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus techniqueC Jakobs, J Kneer, D Martin, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
First prenatal diagnosis of acyl-CoA oxidase deficiencyR J Wanders, A Schelen, N Feller, et al.
Molecular Genetics and Metabolism|October 23, 2010
4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiencyM M C Wamelink, B Roos, E E W Jansen, et al.
European Journal of Pediatrics|January 1, 1991
Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretionJ M van der Klei-van Moorsel, L M Smit, M Brockstedt, et al.
Neurobiology of Disease|July 21, 2004
Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiencyM Gupta, M Polinsky, H Senephansiri, et al.
Psychopharmacology|February 10, 2009
Behavioral effects and pharmacokinetics of gamma-hydroxybutyrate (GHB) precursors gamma-butyrolactone (GBL) and 1,4-butanediol (1,4-BD) in baboonsA K Goodwin, P R Brown, E E W Jansen, et al.
Neuropediatrics|July 13, 2004
Clinical presentations of patients with polyol abnormalitiesJ H J Huck, N M Verhoeven, J M van Hagen, et al.
Pageof 42

Showing results (221-230 of 417) with videos related to

Sort By:
Pageof 42
Prenatal Diagnosis|November 1, 1988
Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemiaC Jakobs, W J Kleijer, H D Bakker, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 15, 1991
4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblastsK M Gibson, C F Lee, K L Chambliss, et al.
European Journal of Pediatrics|February 1, 1991
The first prenatal diagnosis of dihydropyrimidine dehydrogenase deficiencyC Jakobs, F Stellaard, L M Smit, et al.
European Journal of Pediatrics|August 1, 1997
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus techniqueC Jakobs, J Kneer, D Martin, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
First prenatal diagnosis of acyl-CoA oxidase deficiencyR J Wanders, A Schelen, N Feller, et al.
Molecular Genetics and Metabolism|October 23, 2010
4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiencyM M C Wamelink, B Roos, E E W Jansen, et al.
European Journal of Pediatrics|January 1, 1991
Infantile isolated sulphite oxidase deficiency: report of a case with negative sulphite test and normal sulphate excretionJ M van der Klei-van Moorsel, L M Smit, M Brockstedt, et al.
Neurobiology of Disease|July 21, 2004
Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiencyM Gupta, M Polinsky, H Senephansiri, et al.
Psychopharmacology|February 10, 2009
Behavioral effects and pharmacokinetics of gamma-hydroxybutyrate (GHB) precursors gamma-butyrolactone (GBL) and 1,4-butanediol (1,4-BD) in baboonsA K Goodwin, P R Brown, E E W Jansen, et al.
Neuropediatrics|July 13, 2004
Clinical presentations of patients with polyol abnormalitiesJ H J Huck, N M Verhoeven, J M van Hagen, et al.
Pageof 42