253 related articles for article (PubMed ID: 26499347)
21. Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.
Dong H; Ma X; Chen Z; Zhang H; Song J; Jin Y; Li M; Lu M; He R; Zhang Y; Yang Y
BMC Med Genomics; 2024 Jun; 17(1):158. PubMed ID: 38862963
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. The first case of 4-hydroxybutyric aciduria in Japan.
Ishiguro Y; Kajita M; Aoshima T; Watanabe K; Kimura M; Yamaguchi S
Brain Dev; 2001 Mar; 23(2):128-30. PubMed ID: 11248463
[TBL] [Abstract][Full Text] [Related]
24. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.
Lee HHC; Pearl PL; Rotenberg A
J Child Neurol; 2021 Nov; 36(13-14):1200-1209. PubMed ID: 33624531
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency.
Chen XD; Lin YT; Jiang MY; Li XZ; Li D; Hu H; Liu L
Gynecol Endocrinol; 2020 Oct; 36(10):929-933. PubMed ID: 32223457
[No Abstract] [Full Text] [Related]
28. 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]
29. 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. PubMed ID: 25122112
[TBL] [Abstract][Full Text] [Related]
30. Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
Yoganathan S; Arunachal G; Kratz L; Varman M; Thomas M; Sudhakar SV; Oommen SP; Danda S
Ann Indian Acad Neurol; 2020; 23(1):113-117. PubMed ID: 32055132
[TBL] [Abstract][Full Text] [Related]
31. OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report.
Phakey S; Rego T; Gaillard F; Panetta J; Evans A; De Jong G; Walterfang M
BMC Psychiatry; 2020 Aug; 20(1):395. PubMed ID: 32758201
[TBL] [Abstract][Full Text] [Related]
32. Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
Didiášová M; Banning A; Brennenstuhl H; Jung-Klawitter S; Cinquemani C; Opladen T; Tikkanen R
Cells; 2020 Feb; 9(2):. PubMed ID: 32093054
[TBL] [Abstract][Full Text] [Related]
33. Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions.
Ahmadi ZZ; DiBacco ML; Pearl PL
J Child Neurol; 2021 Nov; 36(13-14):1210-1217. PubMed ID: 33757330
[TBL] [Abstract][Full Text] [Related]
34. 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. PubMed ID: 16788854
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. [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. PubMed ID: 23516105
[TBL] [Abstract][Full Text] [Related]
37. Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
Vogel KR; Ainslie GR; Walters DC; McConnell A; Dhamne SC; Rotenberg A; Roullet JB; Gibson KM
J Inherit Metab Dis; 2018 Jul; 41(4):699-708. PubMed ID: 29460030
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]