Albertein van Eerde on Muck Rack

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Articles

The lysosomal V-ATPase B1 subunit in renal proximal tubule is linked to nephropathic cystinosis

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By Amer Jamalpoor, Marc R. Liliën, Esther A. Zaal, Albertein van Eerde
| biorxiv.org
Abstract Background: Recently, a 23-month-old girl presented with increased granulocyte cystine levels, metabolic acidosis and symptoms of renal Fanconi syndrome. Cystinosis was suspected and treatment with electrolytes and cysteamine, a cystine depleting agent, was started that appeared effective. However, genetic testing did not detect any variants in CTNS (the gene affected in cystinosis) but instead revealed pathogenic variants in ATP6V1B1.
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