| 000 | 01522 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250516231215.0 | ||
| 264 | 0 | _c20160401 | |
| 008 | 201604s 0 0 eng d | ||
| 022 | _a1573-7365 | ||
| 024 | 7 |
_a10.1007/s11011-014-9612-6 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMirabelli-Badenier, Marisol | |
| 245 | 0 | 0 |
_aA novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. _h[electronic resource] |
| 260 |
_bMetabolic brain disease _cJun 2015 |
||
| 300 |
_a681-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMucolipidoses _xdiagnosis |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aTransient Receptor Potential Channels _xdeficiency |
| 650 | 0 | 4 |
_aWhite People _xgenetics |
| 700 | 1 | _aSeverino, Mariasavina | |
| 700 | 1 | _aTappino, Barbara | |
| 700 | 1 | _aTortora, Domenico | |
| 700 | 1 | _aCamia, Francesca | |
| 700 | 1 | _aZanaboni, Clelia | |
| 700 | 1 | _aBrera, Fabia | |
| 700 | 1 | _aPriolo, Enrico | |
| 700 | 1 | _aRossi, Andrea | |
| 700 | 1 | _aBiancheri, Roberta | |
| 700 | 1 | _aDi Rocco, Maja | |
| 700 | 1 | _aFilocamo, Mirella | |
| 773 | 0 |
_tMetabolic brain disease _gvol. 30 _gno. 3 _gp. 681-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s11011-014-9612-6 _zAvailable from publisher's website |
| 999 |
_c24129475 _d24129475 |
||