Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of...

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Détails bibliographiques
Auteurs principaux: Stover, E, Borthwick, K, Bavalia, C, Eady, N, Fritz, D, Rungroj, N, Giersch, A, Morton, C, Axon, P, Akil, I, Al-Sabban, E, Baguley, D, Bianca, S, Bakkaloglu, A, Bircan, Z, Chauveau, D, Clermont, M, Guala, A, Hulton, S, Kroes, H, Li, V, Mir, S, Mocan, H, Nayir, A, Ozen, S, Rodriguez, S, Sanjad, S, Tasic, V, Taylor, C, Topaloglu, R, Smith, A, Karet, F
Format: Artigo
Langue:Inglês
Publié: BMJ Group 2002
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Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735017/
https://ncbi.nlm.nih.gov/pubmed/12414817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.11.796
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