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Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. Knerr I, et al. Among authors: snead oc. J Inherit Metab Dis. 2007 Jun;30(3):279-94. doi: 10.1007/s10545-007-0574-2. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457693
Murine succinate semialdehyde dehydrogenase deficiency.
Gupta M, Hogema BM, Grompe M, Bottiglieri TG, Concas A, Biggio G, Sogliano C, Rigamonti AE, Pearl PL, Snead OC 3rd, Jakobs C, Gibson KM. Gupta M, et al. Among authors: snead oc 3rd. Ann Neurol. 2003;54 Suppl 6:S81-90. doi: 10.1002/ana.10625. Ann Neurol. 2003. PMID: 12891658 Review.
416 results