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Clinical Case Reports|February 11, 2016
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case reportMorten A Horn, Karin B M Mikaelsen, Sacha Ferdinandusse, et al.
Molecular Genetics and Metabolism|April 3, 2004
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseasesBwee Tien Poll-The, Ronald J A Wanders, Jos P N Ruiter, et al.
Clinical Chemistry|January 21, 2006
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB geneAnibh M Das, Sabine Illsinger, Thomas Lücke, et al.
The Journal of Biological Chemistry|July 28, 2010
The Arabidopsis peroxisomal ABC transporter, comatose, complements the Saccharomyces cerevisiae pxa1 pxa2Delta mutant for metabolism of long-chain fatty acids and exhibits fatty acyl-CoA-stimulated ATPase activityYvonne Nyathi, Carine De Marcos Lousa, Carlo W van Roermund, et al.
JAMA|August 24, 2006
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiencyBianca T van Maldegem, Marinus Duran, Ronald J A Wanders, et al.
American Journal of Human Genetics|May 11, 2006
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathyS Ferdinandusse, P Kostopoulos, S Denis, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|December 31, 2017
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidaseSacha Ferdinandusse, Simone Denis, Carlo W T van Roermund, et al.
Acta Paediatrica (Oslo, Norway : 1992)|June 13, 2003
Carnitine-acylcarnitine translocase deficiency: case report and review of the literatureM E Rubio-Gozalbo, P Vos, P Ph Forget, et al.
British Journal of Cancer|January 15, 2009
Hsp90 is expressed and represents a therapeutic target in human oesophageal cancer using the inhibitor 17-allylamino-17-demethoxygeldanamycinX Wu, A Wanders, P Wardega, et al.
Human Mutation|May 18, 2004
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated geneNobuyuki Shimozawa, Toshiro Tsukamoto, Tomoko Nagase, et al.
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