涉及神经系统的遗传性过氧化物酶体疾病。 - Suppr

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超能文献

Inherited peroxisomal disorders involving the nervous system.

作者信息

Stephenson J B

机构信息

Fraser of Allander Unit, Royal Hospital for Sick Children, Glasgow.

出版信息

Arch Dis Child. 1988 Jul;63(7):767-70. doi: 10.1136/adc.63.7.767.

DOI:10.1136/adc.63.7.767

PMID:3046503

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1779067/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59f2/1779067/a039f84af2fe/archdisch00684-0009-a.jpg

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Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.

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