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Molecular Genetics and Metabolism|July 27, 2019
Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiencyMadalyn Brown, Paula Ashcraft, Erland Arning, et al.Annals of Neurology|August 2, 2003
Succinic semialdehyde dehydrogenase deficiency in children and adultsPhillip L Pearl, Edward J Novotny, Maria T Acosta, et al.Toxicological Reviews|August 10, 2004
Gamma-hydroxybutyric acid: neurobiology and toxicology of a recreational drugC Guin Ting Wong, Katherine F Y Chan, K Michael Gibson, et al.Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|November 29, 2005
A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometryErwin E W Jansen, K Michael Gibson, Yosuke Shigematsu, et al.JIMD Reports|February 23, 2013
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiencyElena Vanadia, K Michael Gibson, Phillip L Pearl, et al.Journal of Inherited Metabolic Disease|February 4, 2014
Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU)Cary O Harding, Shelley R Winn, K Michael Gibson, et al.Developmental Medicine and Child Neurology|January 6, 2015
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identificationPhillip L Pearl, Mahsa Parviz, Kara Vogel, et al.Annals of Neurology|August 2, 2003
Magnetic resonance spectroscopy of neurotransmitters in human brainEdward J Novotny, Robert K Fulbright, Phillip L Pearl, et al.Annals of Neurology|November 5, 2003
Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiencyKatrin Ergezinger, Reinhard Jeschke, Georg Frauendienst-Egger, et al.Epilepsy Research|July 18, 2020
Transcriptome analysis in mice treated with vigabatrin identifies dysregulation of genes associated with retinal signaling circuitryDana Walters, Kara R Vogel, Madalyn Brown, et al.Pageof 15