000 | 01676 a2200469 4500 | ||
---|---|---|---|
005 | 20250517075248.0 | ||
264 | 0 | _c20161220 | |
008 | 201612s 0 0 eng d | ||
022 | _a1873-3492 | ||
024 | 7 |
_a10.1016/j.cca.2016.01.021 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aWu, Bo | |
245 | 0 | 0 |
_aCraniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features. _h[electronic resource] |
260 |
_bClinica chimica acta; international journal of clinical chemistry _cMay 2016 |
||
300 |
_a122-127 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAlkaline Phosphatase _xmetabolism |
650 | 0 | 4 |
_aBone Diseases, Developmental _xcomplications |
650 | 0 | 4 |
_aCraniofacial Abnormalities _xcomplications |
650 | 0 | 4 |
_aExons _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHeterozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aHyperostosis _xcomplications |
650 | 0 | 4 |
_aHypertelorism _xcomplications |
650 | 0 | 4 |
_aHypocalcemia _xcomplications |
650 | 0 | 4 |
_aHypophosphatemia _xcomplications |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aParathyroid Hormone _xmetabolism |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aPhosphate Transport Proteins _xgenetics |
650 | 0 | 4 |
_aRickets _xcomplications |
700 | 1 | _aJiang, Yan | |
700 | 1 | _aWang, Ou | |
700 | 1 | _aLi, Mei | |
700 | 1 | _aXing, Xiao-Ping | |
700 | 1 | _aXia, Wei-Bo | |
773 | 0 |
_tClinica chimica acta; international journal of clinical chemistry _gvol. 456 _gp. 122-127 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.cca.2016.01.021 _zAvailable from publisher's website |
999 |
_c25678796 _d25678796 |