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Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Spilioti M, Evangeliou AE, Tramma D, Theodoridou Z, Metaxas S, Michailidi E, Bonti E, Frysira H, Haidopoulou A, Asprangathou D, Tsalkidis AJ, Kardaras P, Wevers RA, Jakobs C, Gibson KM. Spilioti M, et al. Among authors: jakobs c. Front Hum Neurosci. 2013 Dec 24;7:858. doi: 10.3389/fnhum.2013.00858. eCollection 2013. Front Hum Neurosci. 2013. PMID: 24399946 Free PMC article.
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Knerr I, et al. Among authors: jakobs c. Pediatr Neurol. 2010 Apr;42(4):255-8. doi: 10.1016/j.pediatrneurol.2009.11.011. Pediatr Neurol. 2010. PMID: 20304328 Free PMC article.
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS. Kranendijk M, et al. Among authors: jakobs c. Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186. Hum Mutat. 2010. PMID: 20020533
What have we here? A man or a fish?
Nanayakkara PW, Meijboom M, Kramer MH, Wevers RA, Jakobs C. Nanayakkara PW, et al. Among authors: jakobs c. Lancet. 2010 Nov 13;376(9753):1710. doi: 10.1016/S0140-6736(10)61151-8. Lancet. 2010. PMID: 21075259 No abstract available.
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.
Lapalme-Remis S, Lewis EC, De Meulemeester C, Chakraborty P, Gibson KM, Torres C, Guberman A, Salomons GS, Jakobs C, Ali-Ridha A, Parviz M, Pearl PL. Lapalme-Remis S, et al. Among authors: jakobs c. Neurology. 2015 Sep 8;85(10):861-5. doi: 10.1212/WNL.0000000000001906. Epub 2015 Aug 12. Neurology. 2015. PMID: 26268900 Free PMC article.
577 results