Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis

Volume: 28, Issue: 2, Pages: 193 - 201
Published: Sep 30, 2019
Abstract
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder, which causes loss of renal proximal tubular function and progressive loss of glomerular function, finally leading to end stage renal failure at school age. In the course of the disease most patients will need kidney transplantation if treatment has not been started before clinical manifestation. With an effective treatment available, a newborn screening assay is...
Paper Details
Title
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
DOI
Published Date
Sep 30, 2019
Journal
Volume
28
Issue
2
Pages
193 - 201
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