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Text
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URL Address
<a href="http://doi.org/10.3109/15513819509026986" target="_blank" rel="noreferrer noopener">http://doi.org/10.3109/15513819509026986</a>
Rights
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Pages
503-513
Issue
3
Volume
15
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Dublin Core
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Title
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RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - REPORT OF A CASE WITH REVIEW OF THE LITERATURE AND CORRELATION WITH OTHER PEROXISOMAL DISORDERS
Publisher
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Pediatric Pathology & Laboratory Medicine
Date
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1995
1995-05
Subject
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Pathology; Pediatrics; peroxisomal disorders; plasmalogen; rhizomelic chondrodysplasia; zellweger syndrome
Creator
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Agamanolis D P; Novak R W
Description
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A 3-year-old girl with rhizomelic chondrodysplasia punctata (RCDP) had severe micrencephaly but a normal gyral pattern, neuronal density, and cortical cytoarchitecture. The white matter was diffusely decreased in mass but normally myelinated. There was optic atrophy and cerebellar degeneration. Leukodystrophy in peroxisomal disorders is caused by elevated very long chain fatty acids. The absence of a fatty acid abnormality in RCDP explains the normal myelination. Cerebellar and retinal degeneration and possible stunted dendritogenesis may be due to plasmalogen deficiency, which is the most severe biochemical abnormality in RCDP.
Identifier
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<a href="http://doi.org/10.3109/15513819509026986" target="_blank" rel="noreferrer noopener">10.3109/15513819509026986</a>
Format
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Journal Article or Conference Abstract Publication
1995
Agamanolis D P
Journal Article or Conference Abstract Publication
Novak R W
Pathology
Pediatric Pathology & Laboratory Medicine
Pediatrics
peroxisomal disorders
plasmalogen
rhizomelic chondrodysplasia
zellweger syndrome