Abstract
We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group. Both patients had biochemical findings typical of patients with peroxisome biogenesis disorders. However, whereas one patient had the typical clinicopathologic features of Zellweger syndrome, the other patient's phenotype was atypical.
Publication types
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Case Reports
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Catalase / chemistry*
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Cell Fusion
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Consanguinity
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Fibroblasts / chemistry
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Genetic Complementation Test
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Humans
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Infant
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Infant, Newborn
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Male
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Microbodies / chemistry*
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Microbodies / genetics*
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Peroxisomal Disorders / diagnosis*
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Peroxisomal Disorders / genetics*
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Phenotype
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Plasma
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Zellweger Syndrome / diagnosis
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Zellweger Syndrome / genetics