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Showing 1 to 3 of 3 for “"polycystic kidney and hepatic disease"”.
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PKHD1-Mutationsspektrum bei pädiatrisch betreuten Patienten mit autosomal-rezessiver polyzystischer Nierenerkrankung (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of renal- and liver related morbidity and mortality in neonates and infants, occurring 1 in 20000-40000 live births. Principal histological manifestations involve the fusiform dilatation of renal collecting ducts and …
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Identifizierung und Charakterisierung von Pkhd1, dem Maus-Ortholog des humanen ARPKD-Gens, sowie Erstellung und Analyse einer Pkhdl mutierten Maus
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder causing renal-related and liver-related morbidity and mortality in childhood, characterized by renal cysts, biliary dysgenesis and congenital hepatic fibrosis due to ductal plate malformation. With an estimated incidence …
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Detektion von Sequenzvarianten mittels DHPLC : Etablierung als automatisiertes Verfahren zur direkten Mutationsanalyse bei autosomal-rezessiver polyzystischer Nierenerkrankung
Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common genetic disorders of the kidney in childhood. Beside cystic alterations of both kidneys, ARPKD is associated with cystic malformation of the bile ducts and congenital fibrosis of the liver. The clinical spectrum ranges …