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Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
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 tr...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6974606/ https://ncbi.nlm.nih.gov/pubmed/31570786 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0521-3 |
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