| 000 | 01824 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250516021740.0 | ||
| 264 | 0 | _c20110523 | |
| 008 | 201105s 0 0 eng d | ||
| 022 | _a1945-7197 | ||
| 024 | 7 |
_a10.1210/jc.2010-1906 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFlanagan, Sarah E | |
| 245 | 0 | 0 |
_aGenome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. _h[electronic resource] |
| 260 |
_bThe Journal of clinical endocrinology and metabolism _cMar 2011 |
||
| 300 |
_aE498-502 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_a3-Hydroxyacyl CoA Dehydrogenases _xgenetics |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDiazoxide |
| 650 | 0 | 4 | _aDiuretics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenome-Wide Association Study |
| 650 | 0 | 4 | _aHaplotypes |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperinsulinism _xgenetics |
| 650 | 0 | 4 |
_aHypoglycemia _xgenetics |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMicrosatellite Repeats |
| 650 | 0 | 4 |
_aMutation _xphysiology |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 700 | 1 | _aPatch, Ann-Marie | |
| 700 | 1 | _aLocke, Jonathan M | |
| 700 | 1 | _aAkcay, Teoman | |
| 700 | 1 | _aSimsek, Enver | |
| 700 | 1 | _aAlaei, Mohammadreza | |
| 700 | 1 | _aYekta, Zeinab | |
| 700 | 1 | _aDesai, Meena | |
| 700 | 1 | _aKapoor, Ritika R | |
| 700 | 1 | _aHussain, Khalid | |
| 700 | 1 | _aEllard, Sian | |
| 773 | 0 |
_tThe Journal of clinical endocrinology and metabolism _gvol. 96 _gno. 3 _gp. E498-502 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1210/jc.2010-1906 _zAvailable from publisher's website |
| 999 |
_c20533573 _d20533573 |
||