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中国医学科学院 北京... [4]
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浏览/检索结果:
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Presence of serum autoantibodies to vacuolar H+-ATPase in patients with renal tubular acidosis
期刊论文
INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES, 2019, 卷号: 22, 期号: 5, 页码: 805-814
作者:
Xu, Chao
;
Li, Yanping
;
Ying, Hui
;
Pan, Yan
;
Shi, Ranran
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/11
autoimmune
renal tubular acidosis
Sjogren's syndrome
vacuolar-H+-ATPase
Structural mechanism of the active bicarbonate transporter from cyanobacteria
期刊论文
NATURE PLANTS, 2019, 卷号: 5, 期号: 11, 页码: 1184-+
作者:
Wang, CC
;
Sun, B
;
Zhang, X
;
Huang, XW
;
Zhang, MH
收藏
  |  
浏览/下载:74/0
  |  
提交时间:2020/10/16
RENAL TUBULAR-ACIDOSIS
STAS DOMAIN
FUNCTIONAL-CHARACTERIZATION
INCREASE PHOTOSYNTHESIS
SULFATE TRANSPORTER
ANION TRANSPORTERS
CRYSTAL-STRUCTURE
MUTATIONS
MEMBRANE
FAMILY
Primary biliary cirrhosis with refractory hypokalemia A case report
期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 48
作者:
Dong, Kai-Hui
;
Fang, Yi-Na
;
Wen, Xiao-Yu
;
Jin, Qing-Long
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/05
hypokalemia
primary biliary cirrhosis
renal tubular acidosis
Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis
期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 10
作者:
Zhang, Ruixiao
;
Wang, Cui
;
Lang, Yanhua
;
Gao, Yanxia
;
Chen, Zeqing
收藏
  |  
浏览/下载:14/0
  |  
提交时间:2019/12/05
distal renal tubular acidosis
novel mutation
SLC4A1
ATP6V0A4
ATP6V1B1
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children
期刊论文
RENAL FAILURE, 2018, 卷号: 40, 期号: 1
作者:
Liu, Jiaojiao
;
Shen, Qian
;
Li, Guomin
;
Zhai, Yihui
;
Fang, Xiaoyan
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/05
ATP6V0A4
ATP6V1B1
SLC4A1
distal renal tubular acidosis
growth
recombinant human growth hormone
Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis
期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 10, 页码: 599-606
作者:
Zhang, Ruixiao
;
Wang, Cui
;
Lang, Yanhua
;
Gao, Yanxia
;
Chen, Zeqing
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2019/12/11
distal renal tubular acidosis
novel mutation
SLC4A1
ATP6V0A4
ATP6V1B1
Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report
期刊论文
BMC NEPHROLOGY, 2018, 卷号: 19, 期号: 1
作者:
Zhao, Xiangzhong
;
Lu, Jingru
;
Gao, Yanxia
;
Wang, Xiaoling
;
Lang, Yanhua
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/11
Distal renal tubular acidosis
ATP6V1B1 gene
Sensorineural hearing
loss
Enlarged vestibular aqueduct
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2018, 卷号: 61, 期号: 8, 页码: 947-953
作者:
Wang Rongrong
;
Yang Shuanghao
;
Xu Ming
;
Huang Jia
;
Liu Hongyan
收藏
  |  
浏览/下载:63/0
  |  
提交时间:2021/02/02
RED-CELL MEMBRANE
HEMATOLOGICALLY IMPORTANT MUTATIONS
RENAL TUBULAR-ACIDOSIS
HEMOLYTIC-ANEMIA
BETA-SPECTRIN
CYTOPLASMIC DOMAIN
BAND-3 DEFICIENCY
DISORDERS
ANKYRIN
VARIANTS
hereditary spherocytosis
mutation
ANK1
SPTB
SLC4A1
whole-exome sequencing
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2018, 卷号: 61, 期号: 8, 页码: 947-953
作者:
Wang Rongrong
;
Yang Shuanghao
;
Xu Ming
;
Huang Jia
;
Liu Hongyan
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2021/02/02
RED-CELL MEMBRANE
HEMATOLOGICALLY IMPORTANT MUTATIONS
RENAL TUBULAR-ACIDOSIS
HEMOLYTIC-ANEMIA
BETA-SPECTRIN
CYTOPLASMIC DOMAIN
BAND-3 DEFICIENCY
DISORDERS
ANKYRIN
VARIANTS
hereditary spherocytosis
mutation
ANK1
SPTB
SLC4A1
whole-exome sequencing
A novel mutant Na+/HCO3(-) cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis
期刊论文
2016, 卷号: 594, 期号: 21, 页码: 6267-6286
作者:
Myers, Evan J.
;
Yuan, Lu
;
Felmlee, Melanie A.
;
Lin, Yuan-Yuan
;
Jiang, Yan
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2020/01/04
acid-base
epithelial transport
pH
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