Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

(2017) Viviana Palazzo et al.   KIDNEY INTERNATIONAL

Clinical and molecular aspects of distal renal tubular acidosis in children

(2017) Martine T. P. Besouw et al.   PEDIATRIC NEPHROLOGY

Mutations inATP6V1B1 and ATP6V0A4genes cause recessive distal renal tubular acidosis in Mexican families

(2016) Laura I. Escobar et al.   Molecular Genetics & Genomic Medicine

Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene

(2016) L. Boualla et al.   Current Research in Translational Medicine

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing

(2015) Juan Gómez et al.   PEDIATRIC RESEARCH

Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations

(2014) Majdi Nagara et al.   Genetic Testing and Molecular Biomarkers

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families

(2014) F Zeinali et al.   JOURNAL OF LARYNGOLOGY AND OTOLOGY

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

(2014) Yanxia Gao et al.   RENAL FAILURE

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes

(2013) Donia Elhayek et al.   BMC Medical Genetics

RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies

(2013) Natalia Mejía et al.   EUROPEAN JOURNAL OF PEDIATRICS

Renal Tubular Acidosis

(2013) Helena Gil-Peña et al.   JOURNAL OF PEDIATRICS

Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis

(2013) Kenichiro Miura et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

ATP6V1B1mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

(2013) Asli Subasioglu Uzak et al.   RENAL FAILURE

Homozygous and compound heterozygous mutations in theATP6V1B1gene in patients with renal tubular acidosis and sensorineural hearing loss

(2012) N Mohebbi et al.   CLINICAL GENETICS

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear

(2012) B. Lorente-Canovas et al.   Disease Models & Mechanisms

Mutation Conferring Apical-Targeting Motif on AE1 Exchanger Causes Autosomal Dominant Distal RTA

(2012) A. C. Fry et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genetic causes and mechanisms of distal renal tubular acidosis

(2012) D. Batlle et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

(2009) Elena Andreucci et al.   PEDIATRIC NEPHROLOGY