| 000 | 01315 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250517093055.0 | ||
| 264 | 0 | _c20171204 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1750-1172 | ||
| 024 | 7 |
_a10.1186/s13023-016-0433-z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPicker-Minh, Sylvie | |
| 245 | 0 | 0 |
_aPhenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. _h[electronic resource] |
| 260 |
_bOrphanet journal of rare diseases _c04 2016 |
||
| 300 |
_a52 p. _bdigital |
||
| 500 | _aPublication Type: Letter | ||
| 650 | 0 | 4 |
_aCarboxylic Ester Hydrolases _xgenetics |
| 650 | 0 | 4 | _aGene Expression Regulation, Enzymologic |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPancreatic Diseases _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aMignot, Cyril | |
| 700 | 1 | _aDoummar, Diane | |
| 700 | 1 | _aHashem, Mais | |
| 700 | 1 | _aFaqeih, Eissa | |
| 700 | 1 | _aJosset, Patrice | |
| 700 | 1 | _aDubern, Béatrice | |
| 700 | 1 | _aAlkuraya, Fowzan S | |
| 700 | 1 | _aKraemer, Nadine | |
| 700 | 1 | _aKaindl, Angela M | |
| 773 | 0 |
_tOrphanet journal of rare diseases _gvol. 11 _gno. 1 _gp. 52 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s13023-016-0433-z _zAvailable from publisher's website |
| 999 |
_c25972727 _d25972727 |
||