一种伴有胎儿及新生儿肾上腺功能不全的新型过氧化物酶体病。
A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.
作者信息
Vanhole C, de Zegher F, Casaer P, Devlieger H, Wanders R J, Vanhove G, Jaeken J
机构信息
Department of Paediatrics, University of Leuven, Belgium.
出版信息
Arch Dis Child Fetal Neonatal Ed. 1994 Jul;71(1):F55-6. doi: 10.1136/fn.71.1.f55.
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.
摘要
本文描述了一名患有新型肾上腺脑白质营养不良的男孩。其特征为胎儿期和新生儿期肾上腺功能不全，具有新生儿肾上腺脑白质营养不良所见的神经学表现，但肝脏中过氧化物酶体数量正常，且过氧化物酶体功能障碍仅限于极长链脂肪酸和植烷酸。
Zotero 插件