Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
about
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneityMolecular mechanisms and regulation of urinary acidificationLack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueductsImportance of early audiologic assessment in distal renal tubular acidosisAn expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria.Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.Genetic causes and mechanisms of distal renal tubular acidosis.Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.Familial autosomal recessive renal tubular acidosis: importance of early diagnosis.
P2860
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P2860
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
@en
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
@nl
type
label
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
@en
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
@nl
prefLabel
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
@en
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
@nl
P2093
P2860
P1476
Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.
@en
P2093
P2860
P304
P356
10.1017/S0022215107009747
P577
2007-08-01T00:00:00Z