Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy-Reference-Cited by-同舟云学术

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Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

Published:2006-06 Issue:6 Volume:78 Page:1046-1052
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Ferdinandusse S.,Kostopoulos P.,Denis S.,Rusch H.,Overmars H.,Dillmann U.,Reith W.,Haas D.,Wanders R.J.A.,Duran M.,Marziniak M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Single peroxisomal enzyme deficiencies;Wanders,2001

2. Identification of the peroxisomal β-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids;Ferdinandusse;J Lipid Res,2004

3. Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein;Ferdinandusse;Am J Hum Genet,2002

4. Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx): activity measurements in liver and fibroblasts using a newly developed method;Ferdinandusse;J Lipid Res,2000

5. The structure of the human sterol carrier protein X/sterol carrier protein 2 gene (SCP2);Ohba;Genomics,1994

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