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Genetic Predisposition to Neural Tube Defects?
Gibson KM, Bottiglieri T. Gibson KM, et al. Among authors: bottiglieri t. Pediatr Res. 2000 Aug;48(2):135. doi: 10.1203/00006450-200008000-00001. Pediatr Res. 2000. PMID: 10926283 No abstract available.
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. Ann Neurol. 2003;54 Suppl 6:S81-90. doi: 10.1002/ana.10625. Ann Neurol. 2003. PMID: 12891658 Review.
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: bottiglieri t. 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
Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD).
Skvorak KJ, Hager EJ, Arning E, Bottiglieri T, Paul HS, Strom SC, Homanics GE, Sun Q, Jansen EE, Jakobs C, Zinnanti WJ, Gibson KM. Skvorak KJ, et al. Among authors: bottiglieri t. Biochim Biophys Acta. 2009 Oct;1792(10):1004-10. doi: 10.1016/j.bbadis.2009.08.006. Epub 2009 Aug 19. Biochim Biophys Acta. 2009. PMID: 19699299 Free PMC article.
273 results