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Blood|February 7, 2004
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosisTaco W Kuijpers, Nikolai A Maianski, Anton T J Tool, et al.
Pacing and Clinical Electrophysiology : PACE|May 6, 2004
Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescenceRenske S Rijlaarsdam, Francjan J van Spronsen, Margreet Th E Bink-Boelkens, et al.
Neurology|February 16, 2006
Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophyM Linnebank, S Kemp, R J A Wanders, et al.
Journal of Inherited Metabolic Disease|May 29, 2020
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance studySuzan J G Knottnerus, Jeannette C Bleeker, Sacha Ferdinandusse, et al.
Mitochondrion|August 29, 2017
AMC-Bio-Artificial Liver culturing enhances mitochondrial biogenesis in human liver cell lines: The role of oxygen, medium perfusion and 3D configurationAziza A A Adam, Martien van Wenum, Vincent A van der Mark, et al.
Frontiers in Pharmacology|February 18, 2021
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine SupplementationArie O Verkerk, Suzan J G Knottnerus, Vincent Portero, et al.
Human Mutation|August 31, 2006
The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophyMichael Linnebank, Alexander Semmler, Wim J Kleijer, et al.
Journal of the American Society of Nephrology : JASN|October 23, 2021
Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 PatientsSander F Garrelfs, Dewi van Harskamp, Hessel Peters-Sengers, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 14, 2008
Ataxia with loss of Purkinje cells in a mouse model for Refsum diseaseSacha Ferdinandusse, Anna W M Zomer, Jasper C Komen, et al.
Molecular Genetics and Metabolism|February 17, 2009
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populationsCheryl R Greenberg, Louise A Dilling, G Robert Thompson, et al.
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