Suppr超能文献

患有先天性白内障的家族中的部分半乳糖代谢紊乱

Partial galactose disorders in families with premature cataracts.

作者信息

Winder A F, Claringbold L J, Jones R B, Jay B S, Rice N S, Kissun R D, Menzies I S, Mount J N

出版信息

Arch Dis Child. 1983 May;58(5):362-6. doi: 10.1136/adc.58.5.362.

Abstract

Minor and major deficiencies of enzymes affecting galactose metabolism may be associated with cataracts of early onset. Results are presented for 10 such families with minor enzymatic disorders. Expression of the major disorders probably involves galactitol accumulation and osmotic lens damage but this mechanism is not obviously associated with minor disorders. The observed incidence of minor incomplete enzymatic disorders of galactose metabolism in families with an incidence of cataracts of early onset may be at least partly incidental.

摘要

影响半乳糖代谢的酶的轻度和重度缺陷可能与早发性白内障有关。本文给出了10个患有轻度酶紊乱的此类家族的研究结果。重度紊乱的表现可能涉及半乳糖醇积累和晶状体渗透性损伤,但这种机制与轻度紊乱并无明显关联。在早发性白内障家族中观察到的轻度半乳糖代谢不完全酶紊乱的发生率可能至少部分是偶然的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a09/1627876/233785b627f7/archdisch00746-0052-a.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验