164 related articles for article (PubMed ID: 32209047)
21. 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]
22. 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]
23. Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Pop A; Smith DEC; Kirby T; Walters D; Gibson KM; Mahmoudi S; van Dooren SJM; Kanhai WA; Fernandez-Ojeda MR; Wever EJM; Koster J; Waterham HR; Grob B; Roos B; Wamelink MMC; Chen J; Natesan S; Salomons GS
Mol Genet Metab; 2020 Jul; 130(3):172-178. PubMed ID: 32402538
[TBL] [Abstract][Full Text] [Related]
24. Clinical impact of correlative [123I]-FP-CIT brain imaging and neurological findings in suspect Parkinson's disease.
Covelli EM; Brunetti A; Di Lauro A; Sullo P; Mazzarella G; Tedeschi E; Belfiore G
Radiol Med; 2004 Oct; 108(4):417-25. PubMed ID: 15525895
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. [123I]FP-CIT (DaTscan) SPECT brain imaging in patients with suspected parkinsonian syndromes.
Hauser RA; Grosset DG
J Neuroimaging; 2012 Jul; 22(3):225-30. PubMed ID: 21410815
[TBL] [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. Pathophysiology and management of neuropsychiatric symptoms in succinic semialdehyde dehydrogenase deficiency.
Phakey S; Walterfang M
Psychiatr Genet; 2021 Jun; 31(3):100-101. PubMed ID: 33953124
[No Abstract] [Full Text] [Related]
30. Global scaling for semi-quantitative analysis in FP-CIT SPECT.
Kupitz D; Apostolova I; Lange C; Ulrich G; Amthauer H; Brenner W; Buchert R
Nuklearmedizin; 2014; 53(6):234-41. PubMed ID: 25209576
[TBL] [Abstract][Full Text] [Related]
31. [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. PubMed ID: 21924025
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Imaging of dopamine transporters with iodine-123-FP-CIT SPECT in healthy controls and patients with Parkinson's disease.
Booij J; Habraken JB; Bergmans P; Tissingh G; Winogrodzka A; Wolters EC; Janssen AG; Stoof JC; van Royen EA
J Nucl Med; 1998 Nov; 39(11):1879-84. PubMed ID: 9829575
[TBL] [Abstract][Full Text] [Related]
34. Quantitation of dopamine transporter blockade by methylphenidate: first in vivo investigation using [123I]FP-CIT and a dedicated small animal SPECT.
Nikolaus S; Wirrwar A; Antke C; Arkian S; Schramm N; Müller HW; Larisch R
Eur J Nucl Med Mol Imaging; 2005 Mar; 32(3):308-13. PubMed ID: 15791440
[TBL] [Abstract][Full Text] [Related]
35. 123I-FP-CIT semi-quantitative SPECT detects preclinical bilateral dopaminergic deficit in early Parkinson's disease with unilateral symptoms.
Filippi L; Manni C; Pierantozzi M; Brusa L; Danieli R; Stanzione P; Schillaci O
Nucl Med Commun; 2005 May; 26(5):421-6. PubMed ID: 15838424
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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; 73(6):423-9. PubMed ID: 19667317
[TBL] [Abstract][Full Text] [Related]
38. 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(Suppl 1):S201-5. PubMed ID: 19484191
[TBL] [Abstract][Full Text] [Related]
39. Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.
Pearl PL; DiBacco ML; Papadelis C; Opladen T; Hanson E; Roullet JB; Gibson KM
J Child Neurol; 2021 Nov; 36(13-14):1153-1161. PubMed ID: 33393837
[TBL] [Abstract][Full Text] [Related]
40. Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.
Manrique Martín G; Ferrero García-Loygorri C; Jiménez Domingo A; Miranda Herrero MC
Neurologia (Engl Ed); 2018; 33(1):63-65. PubMed ID: 26964512
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]