135 related articles for article (PubMed ID: 17471494)
1. Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome.
Knerr I; Gibson KM; Ganesh J; Bennett MJ; Salomons GS; Jakobs C; Myers SM
Am J Med Genet B Neuropsychiatr Genet; 2007 Oct; 144B(7):946-8. PubMed ID: 17471494
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 26499347
[TBL] [Abstract][Full Text] [Related]
3. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
Gibson KM; Christensen E; Jakobs C; Fowler B; Clarke MA; Hammersen G; Raab K; Kobori J; Moosa A; Vollmer B; Rossier E; Iafolla AK; Matern D; Brouwer OF; Finkelstein J; Aksu F; Weber HP; Bakkeren JA; Gabreels FJ; Bluestone D; Barron TF; Beauvais P; Rabier D; Santos C; Lehnert W
Pediatrics; 1997 Apr; 99(4):567-74. PubMed ID: 9093300
[TBL] [Abstract][Full Text] [Related]
4. 4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.
Wamelink MM; Roos B; Jansen EE; Mulder MF; Gibson KM; Jakobs C
Mol Genet Metab; 2011 Feb; 102(2):216-7. PubMed ID: 20965758
[TBL] [Abstract][Full Text] [Related]
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; 574(1):41-7. PubMed ID: 26220405
[TBL] [Abstract][Full Text] [Related]
6. Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency.
Forni S; Pearl PL; Gibson KM; Yu Y; Sweetman L
Mol Genet Metab; 2013 Jul; 109(3):255-9. PubMed ID: 23742746
[TBL] [Abstract][Full Text] [Related]
7. SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
Leo S; Capo C; Ciminelli BM; Iacovelli F; Menduti G; Funghini S; Donati MA; Falconi M; Rossi L; Malaspina P
Metab Brain Dis; 2017 Oct; 32(5):1383-1388. PubMed ID: 28664505
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 27268762
[TBL] [Abstract][Full Text] [Related]
9. Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
Philippe A; Deron J; Geneviève D; de Lonlay P; Gibson KM; Rabier D; Munnich A
Dev Med Child Neurol; 2004 Aug; 46(8):564-8. PubMed ID: 15287248
[TBL] [Abstract][Full Text] [Related]
10. [Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].
Escalera GI; Ferrer I; Marina LC; Sala PR; Salomons GS; Jakobs C; Pérez-Cerdá C
An Pediatr (Barc); 2010 Feb; 72(2):128-32. PubMed ID: 20018576
[TBL] [Abstract][Full Text] [Related]
11. 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
J Inherit Metab Dis; 2007 Jun; 30(3):279-94. PubMed ID: 17457693
[TBL] [Abstract][Full Text] [Related]
12. Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).
Gordon N
Eur J Paediatr Neurol; 2004; 8(5):261-5. PubMed ID: 15341910
[TBL] [Abstract][Full Text] [Related]
13. 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
Brain Res; 2006 May; 1090(1):15-22. PubMed ID: 16647690
[TBL] [Abstract][Full Text] [Related]
14. Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.
Brown M; Ashcraft P; Arning E; Bottiglieri T; Roullet JB; Gibson KM
Mol Genet Metab; 2019; 128(1-2):109-112. PubMed ID: 31345667
[TBL] [Abstract][Full Text] [Related]
15. Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
Jansen EE; Vogel KR; Salomons GS; Pearl PL; Roullet JB; Gibson KM
J Inherit Metab Dis; 2016 Nov; 39(6):795-800. PubMed ID: 27686230
[TBL] [Abstract][Full Text] [Related]
16. Novel mutations in two unrelated Italian patients with SSADH deficiency.
Balzarini M; Rovelli V; Paci S; Rigoldi M; Sanna G; Pillai S; Asunis M; Parini R; Ciminelli BM; Malaspina P
Metab Brain Dis; 2019 Oct; 34(5):1515-1518. PubMed ID: 31267348
[TBL] [Abstract][Full Text] [Related]
17. 4-Hydroxybutyric aciduria: further clinical heterogeneity in a new case.
Onkenhout W; Maaswinkel-Mooij PD; Poorthuis BJ
Eur J Pediatr; 1989 Dec; 149(3):194-6. PubMed ID: 2482184
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 27056292
[TBL] [Abstract][Full Text] [Related]
19. Age-related phenotype and biomarker changes in SSADH deficiency.
DiBacco ML; Roullet JB; Kapur K; Brown MN; Walters DC; Gibson KM; Pearl PL
Ann Clin Transl Neurol; 2019 Jan; 6(1):114-120. PubMed ID: 30656189
[TBL] [Abstract][Full Text] [Related]
20. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype.
Gibson KM; Jakobs C; Pearl PL; Snead OC
IUBMB Life; 2005 Sep; 57(9):639-44. PubMed ID: 16203683
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
