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Fanconi-Bickel syndrome as an example of marked allelic heterogeneity

Renal tubular acidosis (RTA) encompasses many renal tubular disorders characterized by hyperchloremic metabolic acidosis with a normal anion gap. Untreated patients usually complain of growth failure, osteoporosis, rickets, nephrolithiasis and eventually renal insufficiency. Fanconi-Bickel syndrome...

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Autor principal: Al-Haggar, Mohammad
Format: Artigo
Idioma:Inglês
Publicat: Baishideng Publishing Group Co., Limited 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3782201/
https://ncbi.nlm.nih.gov/pubmed/24175243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5527/wjn.v1.i3.63
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