Detalhe da pesquisa
1.
Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry.
J Lipid Res
; 65(6): 100567, 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38795862
2.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
3.
Time-restricted feeding during the inactive phase abolishes the daily rhythm in mitochondrial respiration in rat skeletal muscle.
FASEB J
; 36(2): e22133, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032416
4.
Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown.
J Lipid Res
; 63(6): 100222, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35537527
5.
Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men.
FASEB J
; 35(6): e21611, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977623
6.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
J Inherit Metab Dis
; 45(6): 1094-1105, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053831
7.
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
J Inherit Metab Dis
; 43(6): 1265-1278, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557630
8.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Brain
; 142(11): 3382-3397, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31637422
9.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
J Inherit Metab Dis
; 42(3): 414-423, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30761551
10.
Functional characterisation of peroxisomal ß-oxidation disorders in fibroblasts using lipidomics.
J Inherit Metab Dis
; 41(3): 479-487, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28849344
11.
Plasma lipidomics as a diagnostic tool for peroxisomal disorders.
J Inherit Metab Dis
; 41(3): 489-498, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29209936
12.
Vitamin B6 is essential for serine de novo biosynthesis.
J Inherit Metab Dis
; 40(6): 883-891, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801717
13.
Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios.
J Lipid Res
; 57(8): 1447-54, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27284103
14.
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Biochim Biophys Acta Mol Cell Biol Lipids
; 1869(2): 159447, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181883
15.
A conserved complex lipid signature marks human muscle aging and responds to short-term exercise.
Nat Aging
; 4(5): 681-693, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609524
16.
Alterations in ether lipid metabolism and the consequences for the mouse lipidome.
Biochim Biophys Acta Mol Cell Biol Lipids
; 1868(4): 159285, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36690320
17.
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Front Mol Biosci
; 10: 1283083, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38028537
18.
Aging selectively dampens oscillation of lipid abundance in white and brown adipose tissue.
Sci Rep
; 11(1): 5932, 2021 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33723320
19.
Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation.
Dis Model Mech
; 14(4)2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33653825
20.
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.
Biochim Biophys Acta Gen Subj
; 1864(3): 129484, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31734463