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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2008-3-24
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pubmed:abstractText |
Inherited proximal renal tubular acidosis (pRTA) is commonly associated with more generalized proximal tubular dysfunctions and occasionally with other organ system defects. Inherited combined pRTA and distal RTA with osteopetrosis and pure pRTA associated with ocular abnormalities, a rare disease which has been recently described. Only one family with pure isolated pRTA has been reported so far and the genetic cause for this disease is unknown. Objectives. We report a unique family with isolated pRTA. The aim of the project was to define the phenotype and to try to find the gene defect causing the disease.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Anion Transport Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Bicarbonates,
http://linkedlifedata.com/resource/pubmed/chemical/Biological Markers,
http://linkedlifedata.com/resource/pubmed/chemical/Carbonic Anhydrase II,
http://linkedlifedata.com/resource/pubmed/chemical/Carbonic Anhydrase IV,
http://linkedlifedata.com/resource/pubmed/chemical/Carbonic Anhydrases,
http://linkedlifedata.com/resource/pubmed/chemical/DNA,
http://linkedlifedata.com/resource/pubmed/chemical/Genetic Markers,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Transport Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/SLC26A1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/SLC26A6 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/SLC4A4 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/SLC9A2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/SLC9A8 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Sodium-Bicarbonate Symporters,
http://linkedlifedata.com/resource/pubmed/chemical/Sodium-Hydrogen Antiporter,
http://linkedlifedata.com/resource/pubmed/chemical/carbonic anhydrase XIV,
http://linkedlifedata.com/resource/pubmed/chemical/sodium-hydrogen exchanger 3
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1460-2385
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
23
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1211-5
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pubmed:meshHeading |
pubmed-meshheading:17881426-Acid-Base Equilibrium,
pubmed-meshheading:17881426-Acidosis, Renal Tubular,
pubmed-meshheading:17881426-Anion Transport Proteins,
pubmed-meshheading:17881426-Bicarbonates,
pubmed-meshheading:17881426-Biological Markers,
pubmed-meshheading:17881426-Carbonic Anhydrase II,
pubmed-meshheading:17881426-Carbonic Anhydrase IV,
pubmed-meshheading:17881426-Carbonic Anhydrases,
pubmed-meshheading:17881426-DNA,
pubmed-meshheading:17881426-Female,
pubmed-meshheading:17881426-Genetic Markers,
pubmed-meshheading:17881426-Genetic Predisposition to Disease,
pubmed-meshheading:17881426-Haplotypes,
pubmed-meshheading:17881426-Humans,
pubmed-meshheading:17881426-Infant, Newborn,
pubmed-meshheading:17881426-Kidney Tubules, Proximal,
pubmed-meshheading:17881426-Male,
pubmed-meshheading:17881426-Membrane Transport Proteins,
pubmed-meshheading:17881426-Mutation,
pubmed-meshheading:17881426-Pedigree,
pubmed-meshheading:17881426-Phenotype,
pubmed-meshheading:17881426-Polymerase Chain Reaction,
pubmed-meshheading:17881426-Sodium-Bicarbonate Symporters,
pubmed-meshheading:17881426-Sodium-Hydrogen Antiporter
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pubmed:year |
2008
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pubmed:articleTitle |
Familial pure proximal renal tubular acidosis--a clinical and genetic study.
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pubmed:affiliation |
Ze'ev Katzir, Pediatric Nephrology Services, E. Wolfson Medical Center, Holon, Israel. katzir@wolfson.health.gov.il
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pubmed:publicationType |
Journal Article,
Comparative Study,
Case Reports
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