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Items: 1 to 20 of 110

1.

Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Vogel KR, Pearl PL, Theodore WH, McCarter RC, Jakobs C, Gibson KM.

J Inherit Metab Dis. 2013 May;36(3):401-10. doi: 10.1007/s10545-012-9499-5. Epub 2012 Jun 28. Review.

2.

Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Pearl PL, Shukla L, Theodore WH, Jakobs C, Michael Gibson K.

Brain Dev. 2011 Oct;33(9):796-805. doi: 10.1016/j.braindev.2011.04.013. Epub 2011 Jun 12.

3.

Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.

Pearl PL, Gibson KM, Quezado Z, Dustin I, Taylor J, Trzcinski S, Schreiber J, Forester K, Reeves-Tyer P, Liew C, Shamim S, Herscovitch P, Carson R, Butman J, Jakobs C, Theodore W.

Neurology. 2009 Aug 11;73(6):423-9. doi: 10.1212/WNL.0b013e3181b163a5.

4.

Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Kim KJ, Pearl PL, Jensen K, Snead OC, Malaspina P, Jakobs C, Gibson KM.

Antioxid Redox Signal. 2011 Aug 1;15(3):691-718. doi: 10.1089/ars.2010.3470. Epub 2011 Apr 10. Review.

5.

Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria).

Gupta M, Greven R, Jansen EE, Jakobs C, Hogema BM, Froestl W, Snead OC, Bartels H, Grompe M, Gibson KM.

J Pharmacol Exp Ther. 2002 Jul;302(1):180-7.

6.

Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA.

Pearl PL, Schreiber J, Theodore WH, McCarter R, Barrios ES, Yu J, Wiggs E, He J, Gibson KM.

Neurology. 2014 Mar 18;82(11):940-4. doi: 10.1212/WNL.0000000000000210. Epub 2014 Feb 12.

7.

Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.

Gropman A.

Ann Neurol. 2003;54 Suppl 6:S66-72. Review.

PMID:
12891656
8.

Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.

Buzzi A, Wu Y, Frantseva MV, Perez Velazquez JL, Cortez MA, Liu CC, Shen LQ, Gibson KM, Snead OC 3rd.

Brain Res. 2006 May 23;1090(1):15-22. Epub 2006 May 2.

PMID:
16647690
9.

Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency.

Horvath GA, Hukin J, Stockler-Ipsiroglu SG, Aroichane M.

Neuropediatrics. 2016 Aug;47(4):263-7. doi: 10.1055/s-0036-1583183. Epub 2016 Apr 22.

PMID:
27104484
10.

[Succinic semialdehyde dehydrogenase deficiency].

Deng XL, Yin F, Xiang QL, Liu CT, Peng J.

Zhongguo Dang Dai Er Ke Za Zhi. 2011 Sep;13(9):740-2. Review. Chinese.

11.

GABAB-ergic motor cortex dysfunction in SSADH deficiency.

Reis J, Cohen LG, Pearl PL, Fritsch B, Jung NH, Dustin I, Theodore WH.

Neurology. 2012 Jul 3;79(1):47-54. doi: 10.1212/WNL.0b013e31825dcf71. Epub 2012 Jun 20.

13.
14.

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH.

J Inherit Metab Dis. 2009 Jun;32(3):343-52. doi: 10.1007/s10545-009-1034-y. Epub 2009 Jan 28. Review.

15.
16.

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.

Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C.

Neuropediatrics. 1998 Feb;29(1):14-22. Review.

PMID:
9553943
17.

A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review.

Wang KY, Barker PB, Lin DD.

Childs Nerv Syst. 2016 Jul;32(7):1305-9. doi: 10.1007/s00381-015-2942-9. Epub 2015 Oct 24. Review.

PMID:
26499347
18.

Defects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibition.

Lakhani R, Vogel KR, Till A, Liu J, Burnett SF, Gibson KM, Subramani S.

EMBO Mol Med. 2014 Apr;6(4):551-66. doi: 10.1002/emmm.201303356. Epub 2014 Feb 27.

19.

Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.

Ethofer T, Seeger U, Klose U, Erb M, Kardatzki B, Kraft E, Landwehrmeyer GB, Grodd W, Storch A.

Neurology. 2004 Mar 23;62(6):1016-8.

PMID:
15037717
20.

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

Li X, Ding Y, Liu Y, Zhang Y, Song J, Wang Q, Li M, Qin Y, Huang S, Yang Y.

Gene. 2015 Dec 10;574(1):41-7. doi: 10.1016/j.gene.2015.07.078. Epub 2015 Jul 26. Erratum in: Gene. 2016 Apr 15;580(2):184.

PMID:
26220405

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