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A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.
Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Kay Koenig M, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T, De Vivo D. Striano P, et al. Epilepsia. 2022 Jul;63(7):1748-1760. doi: 10.1111/epi.17263. Epub 2022 May 21. Epilepsia. 2022. PMID: 35441706 Free PMC article. Clinical Trial.
Epilepsy and inborn errors of metabolism in children.
Wolf NI, García-Cazorla A, Hoffmann GF. Wolf NI, et al. J Inherit Metab Dis. 2009 Oct;32(5):609. doi: 10.1007/s10545-009-1171-3. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642011 Review.
Parkinsonism and inborn errors of metabolism.
Garcia-Cazorla A, Duarte ST. Garcia-Cazorla A, et al. J Inherit Metab Dis. 2014 Jul;37(4):627-42. doi: 10.1007/s10545-014-9723-6. Epub 2014 Jun 7. J Inherit Metab Dis. 2014. PMID: 24906253 Review.
Mental retardation and inborn errors of metabolism.
García-Cazorla A, Wolf NI, Serrano M, Moog U, Pérez-Dueñas B, Póo P, Pineda M, Campistol J, Hoffmann GF. García-Cazorla A, et al. J Inherit Metab Dis. 2009 Oct;32(5):597-608. doi: 10.1007/s10545-009-0922-5. Epub 2009 Aug 14. J Inherit Metab Dis. 2009. PMID: 19685154 Review.
Inborn errors of metabolism and motor disturbances in children.
García-Cazorla A, Wolf NI, Serrano M, Pérez-Dueñas B, Pineda M, Campistol J, Fernández-Alvarez E, Colomer J, DiMauro S, Hoffmann GF. García-Cazorla A, et al. J Inherit Metab Dis. 2009 Oct;32(5):618-29. doi: 10.1007/s10545-009-1194-9. J Inherit Metab Dis. 2009. PMID: 19731074 Review.
253 results