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FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 19, 2024
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disordersMarit Schwantje, Signe Mosegaard, Suzan J G Knottnerus, et al.
Frontiers in Cell and Developmental Biology|July 17, 2020
Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked AdrenoleukodystrophyPhillip A Richmond, Frans van der Kloet, Frederic M Vaz, et al.
The Journal of Allergy and Clinical Immunology|February 8, 2021
Metabolic differences between bronchial epithelium from healthy individuals and patients with asthma and the effect of bronchial thermoplastyAbilash Ravi, Annika W M Goorsenberg, Annemiek Dijkhuis, et al.
Journal of Lipid Research|May 25, 2024
Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometryYorrick R J Jaspers, Sven W Meyer, Mia L Pras-Raves, et al.
American Journal of Medical Genetics. Part A|October 28, 2020
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorderMariella T Simon, Shaya S Eftekharian, Sacha Ferdinandusse, et al.
Journal of Medical Genetics|February 14, 2018
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort studyMaarten Arends, Marieke Biegstraaten, Christoph Wanner, et al.
Oral Oncology|August 13, 2018
Frequent HPV-independent p16/INK4A overexpression in head and neck cancerMatt Lechner, Ankur R Chakravarthy, Vonn Walter, et al.
Biochimica Et Biophysica Acta|March 26, 2013
Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutationFrançois Gonzalvez, Marilena D'Aurelio, Marie Boutant, et al.
Molecular Genetics and Metabolism|November 2, 2017
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophyIrene C Huffnagel, Malu-Clair van de Beek, Amanda L Showers, et al.
Scientific Reports|May 27, 2017
A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C. elegansArwen W Gao, Iliana A Chatzispyrou, Rashmi Kamble, et al.
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