| 000 | 01617 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250515133909.0 | ||
| 264 | 0 | _c20090727 | |
| 008 | 200907s 0 0 eng d | ||
| 022 | _a1432-1076 | ||
| 024 | 7 |
_a10.1007/s00431-008-0794-y _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aObermannova, Barbora | |
| 245 | 0 | 0 |
_aUnusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. _h[electronic resource] |
| 260 |
_bEuropean journal of pediatrics _cMay 2009 |
||
| 300 |
_a569-73 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypercalcemia _xcomplications |
| 650 | 0 | 4 |
_aHyperparathyroidism _xcomplications |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aParathyroidectomy |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 | _aPrenatal Diagnosis |
| 650 | 0 | 4 |
_aReceptors, Calcium-Sensing _xgenetics |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 |
_aVitamin D Deficiency _xdiagnosis |
| 700 | 1 | _aBanghova, Karolina | |
| 700 | 1 | _aSumnÃk, Zdenek | |
| 700 | 1 | _aDvorakova, Hana M | |
| 700 | 1 | _aBetka, Jan | |
| 700 | 1 | _aFencl, Filip | |
| 700 | 1 | _aKolouskova, Stanislava | |
| 700 | 1 | _aCinek, Ondrej | |
| 700 | 1 | _aLebl, Jan | |
| 773 | 0 |
_tEuropean journal of pediatrics _gvol. 168 _gno. 5 _gp. 569-73 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00431-008-0794-y _zAvailable from publisher's website |
| 999 |
_c18222716 _d18222716 |
||