Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 130(3): 172-178, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32402538
11.
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
12.
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
13.
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Hum Mutat
; 40(7): 975-982, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908763
14.
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
15.
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
16.
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
17.
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
18.
Oral D-galactose supplementation in PGM1-CDG.
Genet Med
; 19(11): 1226-1235, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617415
19.
Multicompartment analysis of protein-restricted phenylketonuric mice reveals amino acid imbalances in brain.
J Inherit Metab Dis
; 40(2): 227-235, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761676
20.
mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
J Inherit Metab Dis
; 39(6): 877-886, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27518770