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Molecular Genetics and Metabolism|February 5, 2013
Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic feversAnna Simon, Joost P H Drenth, Dietrich Matern, et al.Biochimica Et Biophysica Acta|January 27, 2009
The effects of a ketogenic diet on ATP concentrations and the number of hippocampal mitochondria in Aldh5a1(-/-) miceKirk Nylen, Jose Luis Perez Velazquez, Venus Sayed, et al.Journal of Inherited Metabolic Disease|June 29, 2012
Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolismKara R Vogel, Phillip L Pearl, William H Theodore, et al.EMBO Molecular Medicine|March 1, 2014
Defects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibitionRonak Lakhani, Kara R Vogel, Andreas Till, et al.Pediatric Neurology|March 23, 2010
Neuropathology in succinic semialdehyde dehydrogenase deficiencyIna Knerr, K Michael Gibson, Geoffrey Murdoch, et al.JIMD Reports|May 13, 2020
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiencyMadalyn Brown, Coleman Turgeon, Piero Rinaldo, et al.Antioxidants & Redox Signaling|October 27, 2010
Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significanceKyung-Jin Kim, Phillip L Pearl, Kimmo Jensen, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 2, 2007
Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndromeIna Knerr, K Michael Gibson, Jaya Ganesh, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|April 20, 2004
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiencyManeesh Gupta, Erwin E W Jansen, Henry Senephansiri, et al.Letters in Applied Microbiology|May 30, 2024
Genetically engineered Lactococcus lactis strain constitutively expresses GABA-producing genes and produces high levels of GABAMarcos P Monteiro, Hannah M Kohl, Jean-Baptiste Roullet, et al.Pageof 15