A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of Acyl-CoA oxidase (pseudo–Neonatal adrenoleukodystrophy)

In the present paper two siblings are presented with clinical manifestations very similar to those of patients affected by neonatal adrenoleukodystrophy. In contrast to neonatal adrenoleukodystrophy patients, hepatic peroxisomes in these siblings were enlarged in size and not decreased in number. Ac...

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Hlavní autoři: Poll-The, Bwee Tien, Roels, Frank, Ogier, Hélène, Scotto, Jacques, Vamecq, Joseph, Schutgens, Ruud B. H., Wanders, Ronald J. A., van Roermund, Carlo W. T., van Wijland, Michil J. A., Schram, Adre W., Tager, Joseph M., Saudubray, Jean-Marie
Médium: Artigo
Jazyk:Inglês
Vydáno: 1988
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715143/
https://ncbi.nlm.nih.gov/pubmed/2894756
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