Distal renal tubular acidosis (dRTA) is characterized by a defect in urinary acidification with various degrees of metabolic acidosis; it can be inherited either as an autosomal dominant trait or as a recessive trait. The recessive form is associated in about one third of cases with progressive sensorineural hearing loss (SNHL). We performed a neuroradiological study in 3 consecutive unrelated pediatric patients affected with sporadic dRTA and progressive SNHL that disclosed an enlarged vestibular aqueduct (VA) and endolymphatic sac (ES) in each. The presence of an enlarged VA in our patients with dRTA and SNHL could contribute to the development, or at least the progression, of the hearing impairment. We suppose that the same molecular def...
Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic...
Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidific...
Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ...
A significant number of patients affected by autosomal recessive primary distal renal tubular acidos...
Anand P Swayamprakasam1, Elizabeth Stover1, Elizabeth Norgett1, Katherine G Blake-Palmer1, Michael J...
which permits unrestricted use, distribution, and reproduction in any medium, provided the original ...
We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular ac...
Failure of distal nephrons to excrete excess acid results in the "distal renal tubular acidoses" (dR...
Failure of distal nephrons to excrete excess acid results in the "distal renal tubular acidoses" (dR...
WOS: 000336743500026PubMed ID: 24564331A young female patient born to consanguineous parents was adm...
We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular ac...
SummaryFailure of distal nephrons to excrete excess acid results in the “distal renal tubular acidos...
International audienceHereditary distal renal tubular acidosis (dRTA) is a rare disorder characteriz...
Primary distal renal tubular acidosis (dRTA) is an inherited disease characterized by the inability ...
Abstract Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary...
Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic...
Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidific...
Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ...
A significant number of patients affected by autosomal recessive primary distal renal tubular acidos...
Anand P Swayamprakasam1, Elizabeth Stover1, Elizabeth Norgett1, Katherine G Blake-Palmer1, Michael J...
which permits unrestricted use, distribution, and reproduction in any medium, provided the original ...
We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular ac...
Failure of distal nephrons to excrete excess acid results in the "distal renal tubular acidoses" (dR...
Failure of distal nephrons to excrete excess acid results in the "distal renal tubular acidoses" (dR...
WOS: 000336743500026PubMed ID: 24564331A young female patient born to consanguineous parents was adm...
We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular ac...
SummaryFailure of distal nephrons to excrete excess acid results in the “distal renal tubular acidos...
International audienceHereditary distal renal tubular acidosis (dRTA) is a rare disorder characteriz...
Primary distal renal tubular acidosis (dRTA) is an inherited disease characterized by the inability ...
Abstract Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary...
Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic...
Distal renal tubular acidosis (dRTA) is a tubular disorder with a primary defect of urinary acidific...
Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ...