000 | 01391 a2200409 4500 | ||
---|---|---|---|
005 | 20250518090547.0 | ||
264 | 0 | _c20210406 | |
008 | 202104s 0 0 eng d | ||
022 | _a1720-8386 | ||
024 | 7 |
_a10.1007/s40618-020-01203-x _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMahjoubi, F | |
245 | 0 | 0 |
_aHyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene. _h[electronic resource] |
260 |
_bJournal of endocrinological investigation _cAug 2020 |
||
300 |
_a1125-1130 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aCalcinosis _xetiology |
650 | 0 | 4 | _aExons |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aFibroblast Growth Factor-23 |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aHyperostosis, Cortical, Congenital _xetiology |
650 | 0 | 4 |
_aHyperphosphatemia _xetiology |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aN-Acetylgalactosaminyltransferases _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPrognosis |
650 | 0 | 4 | _aPolypeptide N-acetylgalactosaminyltransferase |
700 | 1 | _aGhadir, M | |
700 | 1 | _aSamanian, S | |
700 | 1 | _aHeydari, I | |
700 | 1 | _aHonardoost, M | |
773 | 0 |
_tJournal of endocrinological investigation _gvol. 43 _gno. 8 _gp. 1125-1130 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/s40618-020-01203-x _zAvailable from publisher's website |
999 |
_c30699272 _d30699272 |