2018
DOI: 10.1093/ndt/gfy104.fp050
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Fp050urinary Peptidome Analysis Allows Non-Invasive Diagnosis of the Rcad Syndrome

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“…Some of the patients could have rare genetic mutations mediating slow growth of the kidneys, ultimately leading to late phase of disease progression often without possibility of any intervention. Autosomal recessive polycystic kidney disease (ARPKD) is one of them which is a heterogeneous genetic disease of the kidneys mainly affecting infants and children (6). It is characterized by the mutation of the polycystic kidney and hepatic disease 1 (PKHD1) gene causing massive enlargement of the kidneys following with episodes of kidney failure (7).…”
mentioning
confidence: 99%
“…Some of the patients could have rare genetic mutations mediating slow growth of the kidneys, ultimately leading to late phase of disease progression often without possibility of any intervention. Autosomal recessive polycystic kidney disease (ARPKD) is one of them which is a heterogeneous genetic disease of the kidneys mainly affecting infants and children (6). It is characterized by the mutation of the polycystic kidney and hepatic disease 1 (PKHD1) gene causing massive enlargement of the kidneys following with episodes of kidney failure (7).…”
mentioning
confidence: 99%