| 000 | 01246 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250517085657.0 | ||
| 264 | 0 | _c20170719 | |
| 008 | 201707s 0 0 spa d | ||
| 022 | _a1578-8989 | ||
| 024 | 7 |
_a10.1016/j.medcli.2016.01.031 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLario, Ana | |
| 245 | 0 | 0 |
_a[New mutation in a young woman diagnosed with Niemann-Pick disease type C]. _h[electronic resource] |
| 260 |
_bMedicina clinica _cJun 2016 |
||
| 300 |
_a494-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Markers |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntracellular Signaling Peptides and Proteins |
| 650 | 0 | 4 |
_aMembrane Glycoproteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aNiemann-Pick C1 Protein |
| 650 | 0 | 4 |
_aNiemann-Pick Disease, Type C _xdiagnosis |
| 700 | 1 | _ade Miguel, Carlos | |
| 700 | 1 | _aOjeda, Emilio | |
| 700 | 1 | _aGil, Santiago | |
| 700 | 1 | _aColl, María J | |
| 700 | 1 | _aAlfonso, Pilar | |
| 773 | 0 |
_tMedicina clinica _gvol. 146 _gno. 11 _gp. 494-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.medcli.2016.01.031 _zAvailable from publisher's website |
| 999 |
_c25865540 _d25865540 |
||