Detalhe da pesquisa
1.
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.
Hum Mol Genet
; 32(9): 1575-1588, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36637428
2.
Elevated d-2-hydroxyglutarate during colitis drives progression to colorectal cancer.
Proc Natl Acad Sci U S A
; 115(5): 1057-1062, 2018 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29339485
3.
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
4.
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
5.
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
Hum Mol Genet
; 26(6): 1182-1192, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158561
6.
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
7.
Drug-Penetration Gradients Associated with Acquired Drug Resistance in Patients with Tuberculosis.
Am J Respir Crit Care Med
; 198(9): 1208-1219, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29877726
8.
Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice.
J Inherit Metab Dis
; 39(3): 447-455, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26960552
9.
One-Carbon Metabolism in Alzheimer's Disease and Parkinson's Disease Brain Tissue.
Nutrients
; 14(3)2022 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35276958
10.
Quantitative Organic Acids in Urine by Two-Dimensional Gas Chromatography-Time-of-Flight Mass Spectrometry (GCxGC-TOFMS).
Methods Mol Biol
; 2546: 351-363, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36127603
11.
Preferential accumulation of the active S-(+) isomer in murine retina highlights novel mechanisms of vigabatrin-associated retinal toxicity.
Epilepsy Res
; 170: 106536, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33385945
12.
High Intakes of [6S]-5-Methyltetrahydrofolic Acid Compared with Folic Acid during Pregnancy Programs Central and Peripheral Mechanisms Favouring Increased Food Intake and Body Weight of Mature Female Offspring.
Nutrients
; 13(5)2021 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33925570
13.
[6S]-5-Methyltetrahydrofolic Acid and Folic Acid Pregnancy Diets Differentially Program Metabolic Phenotype and Hypothalamic Gene Expression of Wistar Rat Dams Post-Birth.
Nutrients
; 13(1)2020 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33375730
14.
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency.
Orphanet J Rare Dis
; 15(1): 261, 2020 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32967698
15.
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Mol Genet Genomic Med
; 7(5): e629, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30829465
16.
Urinary metabolites in patients undergoing coronary catheterization via the radial versus femoral artery approach.
Proc (Bayl Univ Med Cent)
; 30(4): 404-409, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28966445
17.
Quantitative Organic Acids in Urine by Two Dimensional Gas Chromatography-Time of Flight Mass Spectrometry (GCxGC-TOFMS).
Methods Mol Biol
; 1378: 183-97, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26602130