RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

Known as: Autosomal recessive distal renal tubular acidosis, RTADR, RTA, DISTAL, AUTOSOMAL RECESSIVE 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2001-2010
012320012010

Papers overview

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2010
2010
We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with… (More)
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2004
2004
BACKGROUND Mutations in the SLC4A1 gene have been found to cause either autosomal dominant (AD) or autosomal recessive (AR… (More)
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2003
2003
AbstractWe have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the… (More)
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2003
2003
A large proportion of autosomal recessive distal renal tubular acidosis (RTA) is associated with mutations in the ATP6B1 gene… (More)
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2003
2003
Acid-base homeostasis of endolymph is thought to be essential for normal inner ear function. This assumption was supported by… (More)
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2001
2001
The 116-kDa a-subunit of the vacuolar proton pump (H(+)-ATPase) exists as several isoforms encoded by different genes and with… (More)
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