Article

Uncovering the Prevalence of Cystinosis through Genetic Analysis

2023-05-05

Abstract excerpt

<h4>Background</h4> Cystinosis is a metabolic disease characterized by the accumulation of cystine most often presenting in an infantile nephropathic form caused by pathogenic variants in the CTNS gene. It is characterized by progressive loss of glomerular function leading to renal failure by the first decade of life, making early diagnosis crucial to improving outcomes. This study seeks to estimate the prevalence...

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Literature Corpus work: d16a10b9-d296-56ba-b83d-8be718239f8e
DOI: 10.1101/2023.05.04.23289520

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