2例HPRT1突变所致Lesch-Nyhan综合征的肾脏表型分析及文献复习

2例HPRT1突变所致Lesch-Nyhan综合征的肾脏表型分析及文献复习

Saved in:

Bibliographic Details
Main Authors:	颜鸳, 王筱雯, 杨会慧
Format:	Article
Language:	zho
Published:	Editorial Department of Journal of Clinical Nephrology 2024-01-01
Series:	Linchuang shenzangbing zazhi
Online Access:	http://www.lcszb.com/thesisDetails?columnId=78317652&Fpath=home&index=0
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females
by: PATRICK O'NEILL, et al.
Published: (1999-12-01)

Lesch-Nyhan syndrome with HPRT1 gene mutation: a report of two cases with a literature review
by: Yuan Yan, et al.
Published: (2024-11-01)

EFFECTIVE STOMATOLOGICAL MAINTENANCE OF PEDIATRIC PATIENT WITH LESCH–NYHAN SYNDROME
by: N. V. Tarasova, et al.
Published: (2014-01-01)

Gitelman综合征合并库欣病1例并文献复习
by: 张洪旭, et al.
Published: (2024-01-01)

儿童纤维肌发育不良导致肾血管性高血压2例并文献复习
by: 郑雅允, et al.
Published: (2024-01-01)

A Modified Intraoral Resin Mouthguard to Prevent Self-Mutilations in Lesch-Nyhan Patients
by: Giulia Ragazzini, et al.
Published: (2014-01-01)

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series
by: Hung-Hsiang Fang, et al.
Published: (2024-12-01)

溶血尿毒综合征合并IgA肾病患儿1例并文献复习
by: 牛云鹤, et al.
Published: (2024-01-01)

由LHCGR基因杂合突变(M398T)所致家族性男性限性性早熟
Published: (2012-01-01)

糖尿病肾脏疾病血液透析患者并发格林—巴利综合征1例并文献复习
by: 何济南, et al.
Published: (2023-01-01)

Normal Uricemia in Lesch–Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child—A Case Report and Literature Review
by: Jeng-Dau Tsai, et al.
Published: (2014-08-01)

以肾脏表现为首发症状的Fabry病女性患者一例报告并文献复习
by: 张均, et al.
Published: (2016-01-01)

早发肾衰竭的常染色体显性遗传性Alport综合征一家系报告并文献复习
by: 王利霞, et al.
Published: (2023-01-01)

WCN24-2073 Xanthine Incrustation in JJ Stents: a Rare Complication of Urate-Lowering Therapy in Lesch-Nyhan Syndrome with Kidney Stones
by: Maria Rosa Caruso, et al.
Published: (2024-04-01)

以范可尼综合征和早发肾功能异常起病的Dent病1家系报道并文献复习
by: 王利霞, et al.
Published: (2024-01-01)

非典型抗肾小球基底膜病1例并文献复习
by: 黎煜妍, et al.
Published: (2023-01-01)

伴草酸盐结晶沉积的肾损伤1例及文献复习
by: 宋昊昱, et al.
Published: (2023-01-01)

中枢神经系统脱髓鞘疾病患者TPMT基因突变与硫唑嘌呤所致毒副反应的关系
Published: (2016-01-01)

<italic>NSD2</italic>基因突变致Rauch-Steindl综合征1例及生长激素治疗随访
by: 曾群, et al.
Published: (2025-07-01)

成人节段性膜性肾病1例并文献复习
by: 张小凤, et al.
Published: (2023-01-01)

一个Fabry病家系的基因突变和临床表型研究
by: 熊京, et al.
Published: (2013-01-01)

少而大肾单位发育不全伴高血压病例报道并文献复习
by: 李许民, et al.
Published: (2015-01-01)

颈动脉蹼致反复卒中1例的诊疗体会及文献复习(Diagnosis and Treatment Experience of Recurrent Stroke Caused by Carotid Web: A Case Report and Literature Review)
by: 郭志慧，王小洁，汪利，姜斌，康晨瑶(GUO Zhihui, WANG Xiaojie, WANG Li, JIANG Bin, KANG Chenyao )
Published: (2025-07-01)

腹腔游离体导致腹膜透析中断1例并文献复习附视频
Published: (2024-01-01)

肾穿刺活检术后合并腰动脉出血1例并文献复习
by: 原晓丽, et al.
Published: (2024-01-01)

早期漏诊的轻链型淀粉样变性1例并文献复习
by: 周巧丹, et al.
Published: (2024-01-01)

糖尿病肾脏疾病合并Ⅲ型胶原肾小球病1例并文献复习
by: 王韦乐, et al.
Published: (2023-01-01)

胆管细胞癌相关性缺血性卒中1例并文献复习 Cholangiocarcinoma-Associated Ischemic Stroke: A Case Report and Literature Review
by: 韦静雯，宋萍萍，丁燕，张玉生(WEI Jingwen, SONG Pingping, DING Yan, ZHANG Yusheng )
Published: (2025-02-01)

CTNS基因突变致儿童肾病型胱氨酸症1例
by: 丁书培, et al.
Published: (2023-01-01)

肝素诱导的血小板减少症肝素再挑战成功1例并文献复习
by: 徐晓嫦, et al.
Published: (2023-01-01)

甲磺酸萘莫司他用于双重血浆置换抗凝4例并文献复习
by: 邬步云, et al.
Published: (2023-01-01)

先天性环状狭窄综合征(2例报告及国内文献总结)
by: 宋耿铨
Published: (1985-01-01)

足细胞基因突变与激素抵抗型肾病综合征
by: 张全乐, et al.
Published: (2016-01-01)

番茄红素抑制香烟烟雾提取物刺激巨噬细胞所致的炎症反应
by: 邹军, et al.
Published: (2018-01-01)

Effect of Traditional Chinese Medicine in prevention and treatment of anti-tumor drug induced hand-foot syndrome (中医药防治抗肿瘤药物所致手足综合征效果的Meta分析)
by: ZHOU Qiaoli (周巧丽), et al.
Published: (2023-05-01)

胃腺癌组织神经表皮生长因子样1阳性的膜性肾病一例并文献复习
by: 杨伟东, et al.
Published: (2024-01-01)

外伤致Horner综合征的法医学鉴定1例
Published: (2024-12-01)

程序性坏死参与大鼠肠缺血再灌注所致肺损伤的发生
by: 温仕宏, et al.
Published: (2017-01-01)

误诊为过敏性紫癜性肾炎的AL型肾脏淀粉样变性病一例报道及文献复习
Published: (2014-01-01)

中年食管原发性T细胞淋巴瘤合并肾小球肾炎的延迟诊断1例报告并文献复习
by: 张蕊, et al.
Published: (2023-01-01)