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1.
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial ß-oxidation disorders.
FASEB J
; 38(4): e23478, 2024 Feb 29.
Article
in English
| MEDLINE | ID: mdl-38372965
2.
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.
J Inherit Metab Dis
; 45(1): 29-37, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34382226
3.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Brain
; 142(11): 3382-3397, 2019 11 01.
Article
in English
| MEDLINE | ID: mdl-31637422
4.
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Hum Mutat
; 40(10): 1899-1904, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31187905
5.
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.
Mol Genet Metab
; 121(3): 279-282, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28566232
6.
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.
Mol Genet Metab
; 122(4): 209-215, 2017 12.
Article
in English
| MEDLINE | ID: mdl-29089175
7.
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.
J Inherit Metab Dis
; 40(6): 875-881, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28677031
8.
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Mol Genet Metab
; 114(2): 129-37, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25467058
9.
Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.
Biochim Biophys Acta
; 1832(6): 773-9, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23485643
10.
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Biochim Biophys Acta Mol Cell Biol Lipids
; 1869(2): 159447, 2024 03.
Article
in English
| MEDLINE | ID: mdl-38181883
11.
Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.
FASEB J
; 26(10): 4316-26, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-22782973
12.
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.
J Inherit Metab Dis
; 36(2): 247-55, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-22991166
13.
Supernatant of stored platelets causes lung inflammation and coagulopathy in a novel in vivo transfusion model.
Blood
; 116(8): 1360-8, 2010 Aug 26.
Article
in English
| MEDLINE | ID: mdl-20479286
14.
Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.
Biochim Biophys Acta
; 1802(9): 728-32, 2010 Sep.
Article
in English
| MEDLINE | ID: mdl-20538056
15.
Gallstone Formation Follows a Different Trajectory in Bariatric Patients Compared to Nonbariatric Patients.
Metabolites
; 11(10)2021 Oct 05.
Article
in English
| MEDLINE | ID: mdl-34677397
16.
Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Front Cell Dev Biol
; 9: 631655, 2021.
Article
in English
| MEDLINE | ID: mdl-33585488
17.
Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders.
Front Cell Dev Biol
; 8: 690, 2020.
Article
in English
| MEDLINE | ID: mdl-32903870
18.
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Front Cell Dev Biol
; 8: 499, 2020.
Article
in English
| MEDLINE | ID: mdl-32626714
19.
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.
Anal Biochem
; 387(2): 230-7, 2009 Apr 15.
Article
in English
| MEDLINE | ID: mdl-19454236
20.
Quantitative analysis of the experimental cytotoxic drug cyclopentenyl cytosine and its metabolite in plasma with HPLC tandem mass spectrometry.
Biomed Chromatogr
; 22(12): 1368-73, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-18661479