Suppr超能文献

[Distal renal tubular acidosis: report of 3 cases].

作者信息

Guibaud P, Parchoux B, Langue J, Bouissou F, Barthe P, Larbre F

出版信息

J Genet Hum. 1979 Jun;27(2):157-66.

PMID:541679
Abstract

Three observations of R.T.A. with nerve deafness are reported. Case 1 and 2 concern consanguinous brothers whose parents are not affected, which confirm the syndrom as an autosomal recessive entity. The third, sporadic, case relates to a 13-year-old non consanguinous girl. Metabolic abnormalities and renal evolution with nephrocalcinosis was such as in Albright disease. However a progressive nerve deafness makes distinction. The authors underline the importance of this sometimes difficult distinction for genetic counseling.

摘要

相似文献

1
[Distal renal tubular acidosis: report of 3 cases].
J Genet Hum. 1979 Jun;27(2):157-66.
4
The syndrome of renal tubular acidosis with nerve deafness.肾小管性酸中毒伴神经性耳聋综合征
Acta Paediatr Scand. 1976 Jan;65(1):100-4. doi: 10.1111/j.1651-2227.1976.tb04414.x.
7
Renal tubular acidosis and deafness.
Birth Defects Orig Artic Ser. 1971 Mar;07(4):126.
9
Siblings with congenital renal tubular acidosis and nerve deafness.
Clin Genet. 1996 Oct;50(4):235-9. doi: 10.1111/j.1399-0004.1996.tb02634.x.
10
Inherited renal tubular acidosis.遗传性肾小管酸中毒
Adv Nephrol Necker Hosp. 2000;30:147-62.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验