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JIMD Reports|November 18, 2020
Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase-deficient miceMadalyn N Brown, K Michael Gibson, Michelle A Schmidt, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
Age-related phenotype and biomarker changes in SSADH deficiencyMelissa L DiBacco, Jean-Baptiste Roullet, Kush Kapur, et al.
Bioorganic & Medicinal Chemistry Letters|July 9, 2016
Pharmacological protection of mitochondrial function mitigates acute limb ischemia/reperfusion injuryWei Bi, Yue Bi, Xiang Gao, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|July 9, 2003
Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonateCary O Harding, De-Ann M Pillers, Robert D Steiner, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 26, 2011
Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activityLinda Siggberg, Aki Mustonen, Robert Schuit, et al.
Journal of Inherited Metabolic Disease|November 20, 2010
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscleLynne A Wolfe, Miao He, Jerry Vockley, et al.
Hepatology (Baltimore, Md.)|November 24, 2012
Placental stem cell correction of murine intermediate maple syrup urine diseaseKristen J Skvorak, Kenneth Dorko, Fabio Marongiu, et al.
Biochimica Et Biophysica Acta|March 1, 2006
Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiencyErwin E W Jansen, Nanda M Verhoeven, Cornelis Jakobs, et al.
JIMD Reports|June 25, 2016
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase DeficiencyJohn M Schreiber, Phillip L Pearl, Irene Dustin, et al.
Human Mutation|November 25, 2003
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiencyShinjiro Akaboshi, Boris M Hogema, Andrea Novelletto, et al.
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