A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.
نویسندگان
چکیده
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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ورودعنوان ژورنال:
- Archives of disease in childhood. Fetal and neonatal edition
دوره 71 1 شماره
صفحات -
تاریخ انتشار 1994