Results 101 to 110 of about 2,428 (197)

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

, 2019
Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until ...
Kilian, Samuel, Benzing, Thomas, Buescher, Anja, Sauerstein, Katja, Schaefer, Franz, Bammens, Bert, Sterenborg, Rosalie, Grundmann, Franziska, Liebau, Max C., Mekahli, Djalila, Ranchin, Bruno, Billing, Heiko, Schaefer, Susanne, Burgmaier, Kathrin, Wicher, Dorota, Doetsch, Joerg, Weber, Lutz T., Verbeeck, Sarah, Shroff, Rukshana, Michel-Calemard, Laurence, Milosevski-Lomic, Gordana, Klaus, Guenter, Wuehl, Elke, Galiano, Matthias   +23 more
core   +1 more source

Charakterisierung der Interaktion zwischen dem Usher-Syndrom-Protein Harmonin und dem ARPKD-Zystennierenprotein Polyductin [PDF]

, 2010
Cilia are hair-like structures that extend from the surface of epithelial cells. Human diseases referred to as ciliopathies arise from defects in cilia function. Autosomal recessive polycystic kidney disease (ARPKD), the most frequent cause of hereditary
Mager, Silke
core   +1 more source

FPC in ARPKD [PDF]

Nature Reviews Nephrology, 2017
openaire   +1 more source

PKHD1-Mutationsspektrum bei pädiatrisch betreuten Patienten mit autosomal-rezessiver polyzystischer Nierenerkrankung (ARPKD)

, 2006
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.
Küpper, Marc Fabian
core  

Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling

, 2019
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder with an incidence of ~1:20,000 that manifests in a wide range of renal and liver disease severity in human patients and can lead to perinatal mortality.
Hilton, H, Esapa, C, Norman, J, McCarthy-Boxer, A, Richards, T, Dean, C, Goggolidou, P, Modarage, K, Wilson, P   +8 more
core  

The Role of Angiotensin-II Infusion in an Infant With Autosomal Recessive Polycystic Kidney Disease Postbilateral Nephrectomies and Refractory Hypotension in the Neonatal Period

Case Reports in Nephrology
Autosomal recessive polycystic kidney disease (ARPKD) is a form of hereditary cystic disease with a highly variable phenotypic expression that ultimately leads to chronic kidney disease.
Ana Nevarez Gilbert, Adrianne Rahde Bischoff, Kyle Merrill   +2 more
doaj   +1 more source

Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease. [PDF]

J Dev Biol
DeLoriea J, Casey C, Shearer L, Chen V, Bryant A, Gamberi C.   +5 more
europepmc   +1 more source

Biallelic PKD1 mutations causing neonatal death in an extremely preterm infant: a Korean case report of very early-onset ADPKD. [PDF]

BMC Nephrol
Lee DH, Park J, Kim HH, Kim JK.
europepmc   +1 more source

Scoping Review on Polycystic Liver Disease in PKD1/PKD2 Gene Carriers: Genetic Aspects, Pathophysiology, and Therapeutic Approaches. [PDF]

J Clin Exp Hepatol
Muñoz-Delgado DY, Zuñiga-Hernández LF, Barrios-Bermúdez H, Velasco-Erira S, Diaz-Brochero C, Suarez-Quintero CY.   +5 more
europepmc   +1 more source

Congenital hepatic fibrosis and related ciliopathies across the life course: current management, disease burden, and unmet needs in the era of genomic diagnosis and translational therapeutics. [PDF]

Front Pediatr
Wang A, He J, Liu K, Fu J, Chen J.
europepmc   +1 more source