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

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 an unrecognized genetic disorder. Whole-genome linkage analysis in five in...

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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Cabezas, Oscar Rubio, Flanagan, Sarah E., Stanescu, Horia, García-Martínez, Elena, Caswell, Richard, Lango-Allen, Hana, Antón-Gamero, Montserrat, Argente, Jesús, Bussell, Anna-Marie, Brandli, Andre, Cheshire, Chris, Crowne, Elizabeth, Dumitriu, Simona, Drynda, Robert, Hamilton-Shield, Julian P, Hayes, Wesley, Hofherr, Alexis, Iancu, Daniela, Issler, Naomi, Jefferies, Craig, Jones, Peter, Johnson, Matthew, Kesselheim, Anne, Klootwijk, Enriko, Koettgen, Michael, Lewis, Wendy, Martos, José María, Mozere, Monika, Norman, Jill, Patel, Vaksha, Parrish, Andrew, Pérez-Cerdá, Celia, Pozo, Jesús, Rahman, Sofia A, Sebire, Neil, Tekman, Mehmet, Turnpenny, Peter D., Hoff, William van’t, Viering, Daan H.H.M., Weedon, Michael N., Wilson, Patricia, Guay-Woodford, Lisa, Kleta, Robert, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2017
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5533241/
https://ncbi.nlm.nih.gov/pubmed/28373276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2016121312
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