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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.
Subclinical effects of long-chain fatty acid ß-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
J Inherit Metab Dis
; 43(5): 969-980, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32463482
3.
Development and validation of a gas chromatography-mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasma.
Anal Bioanal Chem
; 412(23): 5789-5797, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32648105
4.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Int J Mol Sci
; 21(7)2020 Apr 08.
Article
in English
| MEDLINE | ID: mdl-32276429
5.
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Ann Neurol
; 82(5): 686-696, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-29023963
6.
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.
Rev Endocr Metab Disord
; 19(1): 93-106, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29926323
7.
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer.
Clin Nutr
; 40(3): 1396-1404, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32948349
8.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Front Pharmacol
; 11: 616834, 2020.
Article
in English
| MEDLINE | ID: mdl-33597881
9.
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Biochim Biophys Acta Mol Basis Dis
; 1866(6): 165725, 2020 06 01.
Article
in English
| MEDLINE | ID: mdl-32061778
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