A new peroxisomal disorder with fetal and neonatal adrenal insufficiency

C. Vanhole; F. De Zegher; P. Casaer; H. Devlieger; R. J.A. Wanders; G. Vanhove; J. Jaeken

Journal ArticleOPEN ACCESS

A new peroxisomal disorder with fetal and neonatal adrenal insufficiency

Archives of Disease in Childhood (1994) 71(1 SUPPL.)

DOI: 10.1136/fn.71.1.f55

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Abstract

A boy with a new type of adrenoleukodystrophy is described. This was characterised by fetal and neonatal adrenal insufficiency, a neurological picture as seen in neonatal adrenoleukodystrophy, but with a normal number of peroxisomes in the liver and a peroxisomal dysfunction limited to the very long chain fatty acids and pristanic acid.

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Vanhole, C., De Zegher, F., Casaer, P., Devlieger, H., Wanders, R. J. A., Vanhove, G., & Jaeken, J. (1994). A new peroxisomal disorder with fetal and neonatal adrenal insufficiency. Archives of Disease in Childhood, 71(1 SUPPL.). https://doi.org/10.1136/fn.71.1.f55

A new peroxisomal disorder with fetal and neonatal adrenal insufficiency

Abstract

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