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[新生儿肾上腺脑白质营养不良。关于3例同胞病例]

[Neonatal adrenoleukodystrophy. Apropos of 3 cases in siblings].

作者信息

Sarda H, Henry V, Le Loc'h H, Aubourg P, Poll-The B T, Saudubray J M

出版信息

Ann Pediatr (Paris). 1989 Apr;36(4):233-6.

PMID:2662877
Abstract

Neonatal adrenoleukodystrophy is a recently individualized disease manifested by very early onset of neurologic deterioration. Progression of the disease is rapid and there is no effective therapy. Differences with X-linked adrenoleukodystrophy include genetic inheritance, which is autosomal recessive, a more severe prognosis, and presence of multiple peroxisome enzyme deficiencies that justify classification alongside the Zellweger syndrome among the peroxisome disorders. We report three cases in siblings and describe the main clinical and biochemical features.

摘要

新生儿肾上腺脑白质营养不良是一种最近才被个体化认识的疾病,表现为神经系统恶化很早就开始。疾病进展迅速且没有有效的治疗方法。与X连锁肾上腺脑白质营养不良的区别包括遗传方式,它是常染色体隐性遗传,预后更严重,以及存在多种过氧化物酶缺乏,这使得它在过氧化物酶体疾病中与泽尔韦格综合征一起被归类。我们报告了三例同胞病例,并描述了主要的临床和生化特征。

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