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Items: 1 to 20 of 128

1.

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

Püttmann L, Stehr H, Garshasbi M, Hu H, Kahrizi K, Lipkowitz B, Jamali P, Tzschach A, Najmabadi H, Ropers HH, Musante L, Kuss AW.

Am J Med Genet A. 2013 Aug;161A(8):1915-22. doi: 10.1002/ajmg.a.36030. Epub 2013 Jul 4.

PMID:
23825041
2.

Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations.

Liu N, Kong XD, Kan QC, Shi HR, Wu QH, Zhuo ZH, Bai QL, Jiang M.

J Perinat Med. 2016 May 1;44(4):441-51. doi: 10.1515/jpm-2014-0164. Review.

PMID:
25431891
3.

SSADH deficiency possibly associated with enzyme activity-reducing SNPs.

Akiyama T, Osaka H, Shimbo H, Kuhara T, Shibata T, Kobayashi K, Kurosawa K, Yoshinaga H.

Brain Dev. 2016 Oct;38(9):871-4. doi: 10.1016/j.braindev.2016.03.008. Epub 2016 Apr 4.

PMID:
27056292
4.

A novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Lin CY, Weng WC, Lee WT.

J Child Neurol. 2015 Mar;30(4):486-9. doi: 10.1177/0883073814544365. Epub 2014 Sep 22.

PMID:
25246302
5.

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
6.

Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.

Tay CG, Ariffin H, Yap S, Rahmat K, Sthaneshwar P, Ong LC.

J Child Neurol. 2015 Jun;30(7):927-31. doi: 10.1177/0883073814540523. Epub 2014 Aug 13.

PMID:
25122112
7.

[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].

Jiang SZ, Shu JB, Zhang YQ, Fan WX, Meng YT, Song L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):389-93. doi: 10.3760/cma.j.issn.1003-9406.2013.04.002. Chinese.

PMID:
23926001
9.

Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family.

Lemes A, Blasi P, Gonzales G, Russi ME, Quadrelli R, Novelletto A, Malaspina P.

J Inherit Metab Dis. 2006 Aug;29(4):587. Epub 2006 Jun 19.

PMID:
16788854
10.

[Succinic semialdehyde dehydrogenase deficiency: an inheritable neurometabolic disease].

Gahr M, Connemann BJ, Schönfeldt-Lecuona CJ, Freudenmann RW.

Fortschr Neurol Psychiatr. 2013 Mar;81(3):154-61. doi: 10.1055/s-0032-1330544. Epub 2013 Mar 20. Review. German.

PMID:
23516105
11.

Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Stewart LS, Nylen KJ, Persinger MA, Cortez MA, Gibson KM, Snead OC 3rd.

Epilepsy Behav. 2008 Aug;13(2):290-4. doi: 10.1016/j.yebeh.2008.04.012. Epub 2008 Jun 2.

12.

A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.

Yamakawa Y, Nakazawa T, Ishida A, Saito N, Komatsu M, Matsubara T, Obinata K, Hirose S, Okumura A, Shimizu T.

Brain Dev. 2012 Feb;34(2):107-12. doi: 10.1016/j.braindev.2011.05.003. Epub 2011 May 25.

PMID:
21612881
13.

Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.

Malaspina P, Roullet JB, Pearl PL, Ainslie GR, Vogel KR, Gibson KM.

Neurochem Int. 2016 Oct;99:72-84. doi: 10.1016/j.neuint.2016.06.009. Epub 2016 Jun 14. Review.

14.

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.

15.

[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].

Shu J, Cai F, Fan W, Meng Y, Zhang C, Cai C, Zhang Y, Lin S.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):6-9. doi: 10.3760/cma.j.issn.1003-9406.2017.01.002. Chinese.

PMID:
28186584
16.

A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.

Kwok JS, Yuen CL, Law LK, Tang NL, Cherk SW, Yuen YP.

Pathology. 2012 Apr;44(3):280-2. doi: 10.1097/PAT.0b013e32835140c2. No abstract available.

PMID:
22437753
17.
18.

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Zeiger WA, Sun LR, Bosemani T, Pearl PL, Stafstrom CE.

Pediatr Neurol. 2016 May;58:113-5. doi: 10.1016/j.pediatrneurol.2015.10.009. Epub 2015 Nov 14.

PMID:
27268762
19.
20.

Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency.

Di Rosa G, Malaspina P, Blasi P, Dionisi-Vici C, Rizzo C, Tortorella G, Crutchfield SR, Gibson KM.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S201-5. doi: 10.1007/s10545-009-1154-4. Epub 2009 May 30.

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