| 000 | 01441 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250518075724.0 | ||
| 264 | 0 | _c20200727 | |
| 008 | 202007s 0 0 eng d | ||
| 022 | _a1750-1172 | ||
| 024 | 7 |
_a10.1186/s13023-019-1283-2 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFan, Lijun | |
| 245 | 0 | 0 |
_aNovel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children. _h[electronic resource] |
| 260 |
_bOrphanet journal of rare diseases _c12 2019 |
||
| 300 |
_a299 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAdrenal Hyperplasia, Congenital _xenzymology |
| 650 | 0 | 4 |
_aAntley-Bixler Syndrome Phenotype _xenzymology |
| 650 | 0 | 4 | _aAsian People |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aCytochrome P-450 Enzyme System _xdeficiency |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aRen, Xiaoya | |
| 700 | 1 | _aSong, Yanning | |
| 700 | 1 | _aSu, Chang | |
| 700 | 1 | _aFu, Junfen | |
| 700 | 1 | _aGong, Chunxiu | |
| 773 | 0 |
_tOrphanet journal of rare diseases _gvol. 14 _gno. 1 _gp. 299 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s13023-019-1283-2 _zAvailable from publisher's website |
| 999 |
_c30471014 _d30471014 |
||