hyperinzulinizmus kongenitálny hypoglykémia hyperinzulinemická perzistujúca hypoglykémia hyperinzulinemická pretrvávajúca, v detstve hypoglykémia a hyperinzulinémia perzistentná, v detstve hypoglykémia hyperinzulinemická perzistujúca, u detí
English X references
Persistent Hyperinsulinemia Hypoglycemia of Infancy
Scope note in English
A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
See also reference (FX) in Slovak
ATP-viažuce kazetové transportéry kanály draslíkové, smerujúce dovnútra bunky
