Associated Papers
Case report: Episodic psychosis caused by a novel SCP2 splicing mutation.
Tang H et al.
Frontiers in Neurology, 2023
SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.
Galano M et al.
Human Genomics, 2022
Peroxisomal disorders: the single peroxisomal enzyme deficiencies.
Wanders RJ et al.
Biochimica Et Biophysica Acta, 2006
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
Ferdinandusse S et al.
American Journal of Human Genetics, 2006
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