211 related articles for article (PubMed ID: 15287248)
21. The characterization of psychotic symptoms in succinic semialdehyde dehydrogenase deficiency: a review.
Colijn MA
Psychiatr Genet; 2020 Dec; 30(6):153-161. PubMed ID: 33165204
[TBL] [Abstract][Full Text] [Related]
22. Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.
Shinka T; Inoue Y; Ohse M; Ito A; Ohfu M; Hirose S; Kuhara T
J Chromatogr B Analyt Technol Biomed Life Sci; 2002 Aug; 776(1):57-63. PubMed ID: 12127325
[TBL] [Abstract][Full Text] [Related]
23. 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. PubMed ID: 27311541
[TBL] [Abstract][Full Text] [Related]
24. Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.
Wang P; Cai F; Cao L; Wang Y; Zou Q; Zhao P; Wang C; Zhang Y; Cai C; Shu J
BMC Med Genet; 2019 May; 20(1):88. PubMed ID: 31117962
[TBL] [Abstract][Full Text] [Related]
25. Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1
Brown M; Turgeon C; Rinaldo P; Roullet JB; Gibson KM
Mol Genet Metab; 2019 Dec; 128(4):397-408. PubMed ID: 31699650
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Chambliss KL; Hinson DD; Trettel F; Malaspina P; Novelletto A; Jakobs C; Gibson KM
Am J Hum Genet; 1998 Aug; 63(2):399-408. PubMed ID: 9683595
[TBL] [Abstract][Full Text] [Related]
28. Clinical aspects of the disorders of GABA metabolism in children.
Pearl PL; Gibson KM
Curr Opin Neurol; 2004 Apr; 17(2):107-13. PubMed ID: 15021235
[TBL] [Abstract][Full Text] [Related]
29. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Brown M; Ashcraft P; Arning E; Bottiglieri T; McClintock W; Giancola F; Lieberman D; Hauser NS; Miller R; Roullet JB; Pearl P; Gibson KM
Mol Genet Genomic Med; 2019 May; 7(5):e629. PubMed ID: 30829465
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).
Matern D; Lehnert W; Gibson KM; Korinthenberg R
J Inherit Metab Dis; 1996; 19(3):313-8. PubMed ID: 8803774
[TBL] [Abstract][Full Text] [Related]
33. Succinic semialdehyde dehydrogenase deficiency in children and adults.
Pearl PL; Novotny EJ; Acosta MT; Jakobs C; Gibson KM
Ann Neurol; 2003; 54 Suppl 6():S73-80. PubMed ID: 12891657
[TBL] [Abstract][Full Text] [Related]
34. Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy.
Cortez MA; Wu Y; Gibson KM; Snead OC
Pharmacol Biochem Behav; 2004 Nov; 79(3):547-53. PubMed ID: 15582027
[TBL] [Abstract][Full Text] [Related]
35. GABA, gamma-hydroxybutyric acid, and neurological disease.
Wong CG; Bottiglieri T; Snead OC
Ann Neurol; 2003; 54 Suppl 6():S3-12. PubMed ID: 12891648
[TBL] [Abstract][Full Text] [Related]
36. The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family.
Bekri S; Fossoud C; Plaza G; Guenne A; Salomons GS; Jakobs C; Van Obberghen E
Mol Genet Metab; 2004 Apr; 81(4):347-51. PubMed ID: 15059623
[TBL] [Abstract][Full Text] [Related]
37. Gamma-hydroxybutyric aciduria: a biochemist's education from a heritable disorder of GABA metabolism.
Gibson KM
J Inherit Metab Dis; 2005; 28(3):247-65. PubMed ID: 15868461
[TBL] [Abstract][Full Text] [Related]
38. Inherited disorders of GABA metabolism.
Jakobs C; Jaeken J; Gibson KM
J Inherit Metab Dis; 1993; 16(4):704-15. PubMed ID: 8412016
[TBL] [Abstract][Full Text] [Related]
39. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine.
Lee HHC; McGinty GE; Pearl PL; Rotenberg A
Int J Mol Sci; 2022 Feb; 23(5):. PubMed ID: 35269750
[TBL] [Abstract][Full Text] [Related]
40. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Gibson KM; Sweetman L; Kozich V; Pijackova A; Tscharre A; Cortez A; Eyskens F; Jakobs C; Duran M; Poll-The BT
J Inherit Metab Dis; 1998 Jun; 21(3):255-61. PubMed ID: 9686370
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
