An adult onset case of alpha-methyl-acyl-CoA racemase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-010-9183-6
Reference10 articles.
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3. Ferdinandusse S, Kostopoulos P, Denis S et al (2006) Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. Am J Hum Genet 78:1046–1052
4. Lagerstedt SA, Hinrichs DR, Batt SM, Magera MJ, Rinaldo P, McConnell JP (2001) Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Mol Genet Metab 73:38–45
5. McLean BN, Allen J, Ferdinandusee S, Wanders RJ (2002) A new defect of peroxisomal function involving pristanic acid: a case report. J Neurol Neurosurg Psychiatry 72:396–399
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