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    • Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 

      Cabezas, O. R.; Flanagan, S. E.; Stanescu, H.; García-Martínez, E.; Caswell, R.; Lango-Allen, H.; Antón-Gamero, M.; Argente, J.; Bussell, A-M; Brandli, A.; Cheshire, C.; Crowne, E.; Dumitriu, S.; Drynda, R.; Hamilton-Shield, J. P.; Hayes, W.; Hofherr, A.; Iancu, D.; Issler, N.; Jefferies, C.; Jones, P.; Johnson, M. B.; Kesselheim, A.; Klootwijk, E.; Koettgen, M.; Lewis, W.; Martos, J. M.; Mozere, M.; Norman, J.; Patel, V.; Parrish, A.; Pérez-Cerdá, C.; Pozo, J.; Rahman, S.A.; Sebire, N.; Tekman, M.; Turnpenny, Peter D.; Hoff, W. V.; Viering, D. H H M; Weedon, M. N.; Wilson, P.; Guay-Woodford, L.; Kleta, R.; Hussain, K.; Ellard, Sian; Bockenhauer, D. (American Society of Nephrology, 2017-04-03)
      Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested ...