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Product

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts

Center:

MD-Kennedy Krieger Institute, UCEDD/LEND

Fiscal Year:

2009

Contact Information:

Product Description:

Zellweger spectrum disorders (ZSD) are diagnosed by biochemical assay in blood, urine and cultured fibroblasts and PEX gene mutation identification. In most cases studies in fibroblasts corroborate results obtained in body fluids. In 1996 Clayton and colleagues described a 10-year old girl with evidence of a peroxisome disorder, based on elevated bile acid metabolites and phytanate.

Keyword(s):

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals

Alternative Format:

To Obtain Copies (URL or Email):

COVID-19 Related Data:

N/A

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