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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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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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Baishideng Publishing Group Co., Limited
2012
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| Sarrera elektronikoa: | 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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