Necesidad de estudio genético para el diagnóstico de algunos casos de acidosis tubular renal distal-Reference-Cited by-同舟云学术

Necesidad de estudio genético para el diagnóstico de algunos casos de acidosis tubular renal distal

Published:2016-09 Issue:5 Volume:36 Page:552-555
ISSN:0211-6995
Container-title:Nefrología
language:es
Short-container-title:Nefrología

Author:

Heras Benito Manuel,Garcia-Gonzalez Miguel A.,Valdenebro Recio María,Molina Ordás Álvaro,Callejas Martínez Ramiro,Rodríguez Gómez María Astrid,Calle García Leonardo,Sousa Silva Lisbeth,Fernández-Reyes Luis María José

Publisher

Elsevier BV

Subject

Nephrology

Reference6 articles.

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2. Hereditary causes of kidney stones and chronic kidney disease;Edvardsson;Pediatr Nephrol,2013

3. Genetic causes and mechanisms of distal renal tubular acidosis;Batlle;Nephrol Dial Transplant,2012

4. La acidosis tubular renal distal: una enfermedad hereditaria en la que no se pueden eliminar los hidrogeniones;Escobar;Nefrología,2013

5. Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger;Jarolim;J Biol Chem.,1998

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1. Renal calcification in children with renal tubular acidosis: What a paediatrician ‎should ‎know‎;World Journal of Clinical Pediatrics;2023-12-09

2. Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases;Kidney Diseases;2021

3. Nefrocalcinosis asociada con acidosis tubular renal distal, informe de dos casos;Archivos de Investigación Materno Infantil;2020

4. Personalized Intervention in Monogenic Stone Formers;Journal of Urology;2018-03

5. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis;Kidney International;2017-05