TY  - JOUR
AU  - Martinez, R.
AU  - Fernandez-Ramos, C.
AU  - Vela, A.
AU  - Velayos, T.
AU  - Aguayo, A.
AU  - Urrutia, I.
AU  - Rica, I.
AU  - Castano, L.
AU  - Spanish Congenital Hyperinsulinism
PY  - 2016
DO  - 10.1530/EJE-16-0027
SN  - 0804-4643
UR  - https://hdl.handle.net/10668/25607
T2  - European journal of endocrinology
AB  - Context: Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease characterized by severe hypoglycemia caused by inappropriate insulin secretion by pancreatic beta-cells.Objective: To characterize clinically and...
LA  - en
PB  - Bioscientifica ltd
KW  - Heterozygous abcc8 mutation
KW  - Sulfonylurea receptor sur1
KW  - Atp channel mutations
KW  - Molecular characterization
KW  - Glutamate-dehydrogenase
KW  - Hyperammonemia syndrome
KW  - Phenotype correlations
KW  - Glucokinase mutation
KW  - Dominant mutations
KW  - Diabetes-mellitus
TI  - Clinical and genetic characterization of congenital hyperinsulinism in Spain
TY  - research article
VL  - 174
ER  -