Article
Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism.
Journal of child neurology - 1 Jul 1999
Pineda M, Girós M, Roels F, Espeel M, Ruiz M, Moser A, Moser H W, Wanders R J, Pavia C, Conill J, Aracil A, Amat L, Pampols T
Abstract excerpt
Peroxisomal disorder phenotypes are the result of mutations that cause defective peroxisomal assembly or alterations in the import mechanism of peroxisomal proteins that lead to multiple peroxisomal dysfunctions, or the result of a peroxisomal enzymatic deficiency with a single peroxisomal dysfunction. With complementation analysis, 16 groups have been found. Assignment of the genetic defect has been described...
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