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Start Over Author "MacCollin M" Journal annals of neurology
2 results on '"MacCollin M"'

2. Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis.

Author

MacCollin M, De Vivo DC, Moser AB, and Beard M

Subjects
Brain pathology, Child, Preschool, Fibroblasts, Humans, Liver enzymology, Liver metabolism, Magnetic Resonance Imaging, Male, Microbodies enzymology, Phytanic Acid blood, Ataxia metabolism, Microbodies metabolism, Peripheral Nervous System Diseases metabolism
Abstract

A 5-year-old boy with panperoxisomal dysfunction is described. Clinical features included hypotonia, areflexia, and ataxia. Cognition, vision, hearing, and hepatic function were normal. A panel of peroxisomal markers, including very-long-chain fatty acids, phytanic acid, pipecolic acid, and catalase compartmentalization, were abnormal. This is a uniquely benign syndrome of disordered peroxisome biogenesis.

Published
1990
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