Number of the records: 1
hyperinzulinizmus vrodený
SYS d044903 LBL 00000cz--a2200000n--4500 005 20250606214327.8 008 030709|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $a BA006 $d BA006 $d BA006 065 $a C06.689.150 065 $a C16.614.200 065 $a C18.452.394.968.250 065 $a C18.452.394.984.200 066 $a 01 $c 03 150 $a hyperinzulinizmus vrodený $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a Persistent Hyperinsulinemia Hypoglycemia of Infancy $2 eng 450 $w v $a hyperinzulinizmus kongenitálny $2 slo 450 $w v $a hypoglykémia hyperinzulinemická perzistujúca $2 slo 450 $w v $a hypoglykémia hyperinzulinemická pretrvávajúca, v detstve $2 slo 450 $w v $a hypoglykémia a hyperinzulinémia perzistentná, v detstve $2 slo 450 $w v $a hypoglykémia hyperinzulinemická perzistujúca, u detí $2 slo 550 $7 sllk_us_auth*d018528 $Y ATP-Binding Cassette Transporters $w b $a ATP-viažuce kazetové transportéry 550 $7 sllk_us_auth*d024661 $Y Potassium Channels, Inwardly Rectifying $w b $a kanály draslíkové, smerujúce dovnútra bunky 550 $7 sllk_us_auth*d018528 $Y ATP-Binding Cassette Transporters $w p $a ATP-viažuce kazetové transportéry 550 $7 sllk_us_auth*d024661 $Y Potassium Channels, Inwardly Rectifying $w p $a kanály draslíkové, smerujúce dovnútra bunky 665 $a 2014(2004) $2 eng 665 $a Chromosomes, Human, Pair 11 (1995-2003) $2 eng 665 $a Hyperinsulinism (1977-2003) $2 eng 665 $a Hypoglycemia (1977-2003) $2 eng 680 9-
$i 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). $2 eng 750 -2
$a Congenital Hyperinsulinism $2 eng 980 $x M
Number of the records: 1