Showing results (171-180 of 248) with videos related to
Sort By:
Pageof 25
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.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.Prenatal Diagnosis|May 1, 1986
Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosisF R Sweetman, K M Gibson, L Sweetman, et al.Journal of Inherited Metabolic Disease|December 22, 1999
Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblastsD P O'Brien, B A Barshop, K K Faunt, et al.Journal of Inherited Metabolic Disease|October 1, 2016
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolismE E Jansen, K R Vogel, G S Salomons, et al.Prenatal Diagnosis|August 1, 1995
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiencyG A Mitchell, C Jakobs, K M Gibson, et al.Biochimica Et Biophysica Acta|February 16, 2007
Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterationsG Barcelo-Coblijn, E J Murphy, K Mills, et al.Biomedical & Environmental Mass Spectrometry|February 1, 1990
Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduriaK M Gibson, S Aramaki, L Sweetman, et al.Annals of Neurology|September 1, 1986
Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyH Y Zoghbi, J E Spence, A L Beaudet, et al.Pageof 25