Article

Nephropathic cystinosis in a Chilean cohort: Clinical and genetic characterization

2022-06-06

Abstract excerpt

<title>Abstract</title> <p>Cystinosis is a rare disease caused by <italic>CTNS </italic>gene defects. The main clinical presentations are nephropathic infantile cystinosis (NIC) and nephropathic juvenile cystinosis (NJC); both develop chronic kidney disease (CKD) and extrarenal complications. Opportune diagnosis and access to therapy are challenging in developing countries. <h4>Objectives:</h4> To describe the cl...

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Literature Corpus work: 6bce9596-6c1b-5833-9be4-e210d7486196
DOI: 10.21203/rs.3.rs-1717027/v1

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