Detalhe da pesquisa
1.
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.
Neurobiol Dis
; 181: 106108, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37003407
2.
Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Mol Genet Metab
; 138(2): 106983, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36709536
3.
Simple and accurate quantitative analysis of cefiderocol and ceftobiprole in human plasma using liquid chromatography-isotope dilution tandem mass spectrometry: interest for their therapeutic drug monitoring and pharmacokinetic studies.
Clin Chem Lab Med
; 59(11): 1800-1810, 2021 10 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34243226
4.
A new AMPK activator, GSK773, corrects fatty acid oxidation and differentiation defect in CPT2-deficient myotubes.
Hum Mol Genet
; 27(19): 3417-3433, 2018 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30007356
5.
ShiF acts as an auxiliary factor of aerobactin secretion in meningitis Escherichia coli strain S88.
BMC Microbiol
; 19(1): 298, 2019 12 17.
Artigo
Inglês
| MEDLINE | ID: mdl-31847813
6.
LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly.
Clin Chem
; 2022 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35015843
7.
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
J Inherit Metab Dis
; 39(1): 47-58, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26109258
8.
The ssbL gene harbored by the ColV plasmid of an Escherichia coli neonatal meningitis strain is an auxiliary virulence factor boosting the production of siderophores through the shikimate pathway.
J Bacteriol
; 196(7): 1343-9, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24443535
9.
Simultaneous quantification of four hormone therapy drugs by LC-MS/MS: Clinical applications in breast cancer patients.
J Pharm Biomed Anal
; 242: 116032, 2024 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38367520
10.
Methylation metabolites in amniotic fluid depend on gestational age.
Prenat Diagn
; 33(9): 848-55, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23613283
11.
Determination of plasma concentration of Belimumab by LC-MS/MS: Method development, validation, and clinical application.
J Pharm Biomed Anal
; 236: 115730, 2023 Nov 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37734255
12.
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
Orphanet J Rare Dis
; 17(1): 417, 2022 11 14.
Artigo
Inglês
| MEDLINE | ID: mdl-36376887
13.
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Am J Hum Genet
; 82(3): 623-30, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18319072
14.
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
J Clin Invest
; 117(3): 765-72, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17332895
15.
Peroxisome proliferator activated receptor delta (PPARdelta) agonist but not PPARalpha corrects carnitine palmitoyl transferase 2 deficiency in human muscle cells.
J Clin Endocrinol Metab
; 90(3): 1791-7, 2005 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15613406
16.
Development and validation of a liquid chromatographic/tandem mass spectrometric assay for the quantitation of nucleoside HIV reverse transcriptase inhibitors in biological matrices.
J Mass Spectrom
; 40(1): 9-18, 2005 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-15643642
17.
Significant levels of intracellular stavudine triphosphate are found in HIV-infected zidovudine-treated patients.
AIDS
; 17(4): 555-61, 2003 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-12598776
18.
Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.
Orphanet J Rare Dis
; 9: 79, 2014 Jun 05.
Artigo
Inglês
| MEDLINE | ID: mdl-24898617
19.
Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method.
J Chromatogr B Analyt Technol Biomed Life Sci
; 879(31): 3694-9, 2011 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22035979
20.
Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice.
PLoS One
; 6(12): e28823, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-22174907