| 000 | 01738 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516121940.0 | ||
| 264 | 0 | _c20130516 | |
| 008 | 201305s 0 0 eng d | ||
| 022 | _a1097-6833 | ||
| 024 | 7 |
_a10.1016/j.jpeds.2012.10.012 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGucev, Zoran S | |
| 245 | 0 | 0 |
_aDistinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. _h[electronic resource] |
| 260 |
_bThe Journal of pediatrics _cApr 2013 |
||
| 300 |
_a819-22 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdrenal Insufficiency _xdiagnosis |
| 650 | 0 | 4 |
_aCholesterol Side-Chain Cleavage Enzyme _xdeficiency |
| 650 | 0 | 4 |
_aDNA _xmetabolism |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGlucocorticoids _xdeficiency |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aIntrons |
| 650 | 0 | 4 | _aKuwait |
| 650 | 0 | 4 |
_aLeukocytes _xmetabolism |
| 650 | 0 | 4 |
_aMineralocorticoids _xdeficiency |
| 650 | 0 | 4 | _aModels, Genetic |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPhosphoproteins _xdeficiency |
| 650 | 0 | 4 | _aPolymorphism, Restriction Fragment Length |
| 650 | 0 | 4 | _aSteroidogenic Acute Regulatory Protein |
| 700 | 1 | _aTee, Meng Kian | |
| 700 | 1 | _aChitayat, David | |
| 700 | 1 | _aWherrett, Diane K | |
| 700 | 1 | _aMiller, Walter L | |
| 773 | 0 |
_tThe Journal of pediatrics _gvol. 162 _gno. 4 _gp. 819-22 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.jpeds.2012.10.012 _zAvailable from publisher's website |
| 999 |
_c22269869 _d22269869 |
||