Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
نویسندگان
چکیده
of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference Lisa M. Guay-Woodford, MD, John J. Bissler, MD, Michael C. Braun, MD, Detlef Bockenhauer, MD, Melissa A. Cadnapaphornchai, MD, Katherine M. Dell, MD, Larissa Kerecuk, MD, Max C. Liebau, MD, Maria H. Alonso-Peclet, MD, Benjamin Shneider, MD, Sukru Emre, MD, Theo Heller, MD, Binita M. Kamath, MD, Karen F. Murray, MD, Kenneth Moise, MD, Eric E. Eichenwald, MD, Jacquelyn Evans, MD, Roberta L. Keller, MD, Louise Wilkins-Haug, MD, Carsten Bergmann, MD, Meral Gunay-Aygun, MD, Stephen R. Hooper, PhD, Kristina K. Hardy, PhD, Erum A. Hartung, MD, Randi Streisand, PhD, Ronald Perrone, MD, and Marva Moxey-Mims, MD
منابع مشابه
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
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عنوان ژورنال:
- The Journal of pediatrics
دوره 165 3 شماره
صفحات -
تاریخ انتشار 2014