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Renal tubular acidosis. A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia.

作者信息

Györy A Z, Edwards K D

出版信息

Am J Med. 1968 Jul;45(1):43-62. doi: 10.1016/0002-9343(68)90006-5.

DOI:10.1016/0002-9343(68)90006-5
PMID:5658868
Abstract
摘要

相似文献

1
Renal tubular acidosis. A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia.
Am J Med. 1968 Jul;45(1):43-62. doi: 10.1016/0002-9343(68)90006-5.
2
Hypocitraturic and hypercalciuric renal tubular acidosis with nephrocalcinosis in a 4-year-old boy.
Int Urol Nephrol. 1990;22(5):413-7. doi: 10.1007/BF02549771.
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Renal tubular acidosis and bilateral nephrocalcinosis in uniovular twins.单卵双胞胎中的肾小管酸中毒和双侧肾钙质沉着症
Ger Med Mon. 1967 Dec;12(12):565-70 passim.
4
[Incomplete renal tubular acidosis with recurrent nephrolithiasis and nephrocalcinosis].
Urologe A. 1973 Jul;12(4):162-6.
5
Incomplete renal tubular acidosis. Physiologic studies in three patients with a defect in lowering urine pH.
Am J Med. 1968 Jul;45(1):32-42. doi: 10.1016/0002-9343(68)90005-3.
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The genetics of primary renal tubular acidosis.原发性肾小管酸中毒的遗传学
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Nephrolithiasis in renal tubular acidosis.肾小管酸中毒中的肾结石病
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Familial absorptive hypercalciuria and renal tubular acidosis.家族性吸收性高钙尿症与肾小管酸中毒。
Am J Med. 1979 Sep;67(3):385-91. doi: 10.1016/0002-9343(79)90783-6.
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Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1).缺乏AE1（带3）Cl⁻/HCO₃⁻交换体（slc4a1）的小鼠中的远端肾小管酸中毒
J Am Soc Nephrol. 2007 May;18(5):1408-18. doi: 10.1681/ASN.2006101072. Epub 2007 Apr 4.
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[Renal tubular acidosis in adulthood].成人肾小管性酸中毒
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引用本文的文献

1
Ammonia Transporters and Their Role in Acid-Base Balance.氨转运体及其在酸碱平衡中的作用。
Physiol Rev. 2017 Apr;97(2):465-494. doi: 10.1152/physrev.00011.2016.
2
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.氯离子-碳酸氢根离子交换体基因AE1的突变会导致常染色体显性遗传性远端肾小管酸中毒，而非常染色体隐性遗传性远端肾小管酸中毒。
Proc Natl Acad Sci U S A. 1998 May 26;95(11):6337-42. doi: 10.1073/pnas.95.11.6337.
3
'Renal tubular acidosis--a case report'.肾小管酸中毒——病例报告
Indian J Pediatr. 1983 Mar-Apr;50(403):233-7. doi: 10.1007/BF02821450.
4
The effect of uncomplicated potassium depletion on urine acidification.单纯性低钾血症对尿液酸化的影响。
J Clin Invest. 1970 Apr;49(4):813-27. doi: 10.1172/JCI106295.
5
A one-week introductory course in clinical biochemistry and research based on renal function testing in man.一门为期一周的临床生物化学入门课程，该课程以人体肾功能测试为基础开展研究。
J Clin Pathol. 1971 Dec;24(9):870-6. doi: 10.1136/jcp.24.9.870.
6
[Studies of renal phosphate transport in essential and renovascular hypertension, pyelonephritis and glomerulonephritis].[原发性高血压、肾血管性高血压、肾盂肾炎及肾小球肾炎中肾磷酸盐转运的研究]
Klin Wochenschr. 1971 Oct 15;49(20):1121-8. doi: 10.1007/BF01487587.
7
Studies on the pathogenesis of type I (distal) renal tubular acidosis as revealed by the urinary PCO2 tensions.通过尿二氧化碳分压揭示的I型（远端）肾小管酸中毒发病机制的研究。
J Clin Invest. 1974 Mar;53(3):669-77. doi: 10.1172/JCI107604.
8
Comprehensive one-day renal function testing in man.人体一日综合肾功能检测
J Clin Pathol. 1974 May;27(5):382-91. doi: 10.1136/jcp.27.5.382.