TY  - JOUR
AU  - Cabezas, Oscar Rubio
AU  - Flanagan, Sarah E
AU  - Stanescu, Horia
AU  - García-Martínez, Elena
AU  - Caswell, Richard
AU  - Lango-Allen, Hana
AU  - Antón-Gamero, Montserrat
AU  - Argente, Jesús
AU  - Bussell, Anna-Marie
AU  - Brandli, Andre
AU  - Cheshire, Chris
AU  - Crowne, Elizabeth
AU  - Dumitriu, Simona
AU  - Drynda, Robert
AU  - Hamilton-Shield, Julian P
AU  - Hayes, Wesley
AU  - Hofherr, Alexis
AU  - Iancu, Daniela
AU  - Issler, Naomi
AU  - Jefferies, Craig
AU  - Jones, Peter
AU  - Johnson, Matthew
AU  - Kesselheim, Anne
AU  - Klootwijk, Enriko
AU  - Koettgen, Michael
AU  - Lewis, Wendy
AU  - Martos, José María
AU  - Mozere, Monika
AU  - Norman, Jill
AU  - Patel, Vaksha
AU  - Parrish, Andrew
AU  - Pérez-Cerdá, Celia
AU  - Pozo, Jesús
AU  - Rahman, Sofia A
AU  - Sebire, Neil
AU  - Tekman, Mehmet
AU  - Turnpenny, Peter D
AU  - Hoff, William Van't
AU  - Viering, Daan H H M
AU  - Weedon, Michael N
AU  - Wilson, Patricia
AU  - Guay-Woodford, Lisa
AU  - Kleta, Robert
AU  - Hussain, Khalid
AU  - Ellard, Sian
AU  - Bockenhauer, Detlef
PY  - 2017
DO  - 10.1681/ASN.2016121312
UR  - http://hdl.handle.net/10668/11047
T2  - Journal of the American Society of Nephrology : JASN
AB  - 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...
LA  - en
KW  - PMM2
KW  - ZNF143
KW  - glycosylation
KW  - hyperinsulinemic hypoglycemia
KW  - polycystic kidney disease
KW  - promoter
KW  - Child, Preschool
KW  - Congenital Hyperinsulinism
KW  - Female
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Phosphotransferases (Phosphomutases)
KW  - Polycystic Kidney Diseases
KW  - Promoter Regions, Genetic
TI  - Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
TY  - research article
VL  - 28
ER  -