Detalhe da pesquisa
1.
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Neurobiol Dis
; 190: 106386, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110041
2.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452608
3.
Allosteric modulation of α1ß3γ2 GABAA receptors by farnesol through the neurosteroid sites.
Biophys J
; 122(5): 849-867, 2023 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36721367
4.
Farnesol brain transcriptomics in CNS inflammatory demyelination.
Clin Immunol
; 255: 109752, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37673223
5.
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Hum Genet
; 142(12): 1755-1776, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962671
6.
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Epilepsia
; 64(6): 1516-1526, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36961285
7.
Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency.
J Sleep Res
; : e14105, 2023 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148273
8.
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 46(5): 992-1003, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37219411
9.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
J Inherit Metab Dis
; 2023 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455357
10.
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Dev Med Child Neurol
; 65(12): 1596-1606, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246331
11.
Farnesol induces protection against murine CNS inflammatory demyelination and modifies gut microbiome.
Clin Immunol
; 235: 108766, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34091018
12.
Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD).
Mol Genet Metab
; 135(1): 42-46, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34896003
13.
Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism.
Mol Genet Metab
; 132(1): 1-10, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33358495
14.
Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Metab Brain Dis
; 35(5): 849-850, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32306187
15.
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Metab Brain Dis
; 35(4): 601-614, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32172518
16.
Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1-/- mice, a model of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 128(4): 397-408, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31699650
17.
Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 128(1-2): 109-112, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31345667
18.
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
J Inherit Metab Dis
; 42(5): 1030-1039, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31032972
19.
Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
J Inherit Metab Dis
; 41(4): 699-708, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460030
20.
Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe.
J Pediatr
; 188: 198-204.e1, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28625503