| 000 | 02205 a2200745 4500 | ||
|---|---|---|---|
| 005 | 20250515000218.0 | ||
| 264 | 0 | _c20060616 | |
| 008 | 200606s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2005.036673 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDel Fattore, A | |
| 245 | 0 | 0 |
_aClinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cApr 2006 |
||
| 300 |
_a315-25 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAlkaline Phosphatase _xblood |
| 650 | 0 | 4 |
_aBone Resorption _xmetabolism |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aChloride Channels _xchemistry |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aHydrogen-Ion Concentration |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aOsteocalcin _xblood |
| 650 | 0 | 4 |
_aOsteoclasts _xpathology |
| 650 | 0 | 4 |
_aOsteopetrosis _xdiagnosis |
| 650 | 0 | 4 |
_aPhosphoric Monoester Hydrolases _xblood |
| 650 | 0 | 4 |
_aSodium-Hydrogen Exchangers _xphysiology |
| 650 | 0 | 4 |
_aVacuolar Proton-Translocating ATPases _xgenetics |
| 700 | 1 | _aPeruzzi, B | |
| 700 | 1 | _aRucci, N | |
| 700 | 1 | _aRecchia, I | |
| 700 | 1 | _aCappariello, A | |
| 700 | 1 | _aLongo, M | |
| 700 | 1 | _aFortunati, D | |
| 700 | 1 | _aBallanti, P | |
| 700 | 1 | _aIacobini, M | |
| 700 | 1 | _aLuciani, M | |
| 700 | 1 | _aDevito, R | |
| 700 | 1 | _aPinto, R | |
| 700 | 1 | _aCaniglia, M | |
| 700 | 1 | _aLanino, E | |
| 700 | 1 | _aMessina, C | |
| 700 | 1 | _aCesaro, S | |
| 700 | 1 | _aLetizia, C | |
| 700 | 1 | _aBianchini, G | |
| 700 | 1 | _aFryssira, H | |
| 700 | 1 | _aGrabowski, P | |
| 700 | 1 | _aShaw, N | |
| 700 | 1 | _aBishop, N | |
| 700 | 1 | _aHughes, D | |
| 700 | 1 | _aKapur, R P | |
| 700 | 1 | _aDatta, H K | |
| 700 | 1 | _aTaranta, A | |
| 700 | 1 | _aFornari, R | |
| 700 | 1 | _aMigliaccio, S | |
| 700 | 1 | _aTeti, A | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 43 _gno. 4 _gp. 315-25 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2005.036673 _zAvailable from publisher's website |
| 999 |
_c15755197 _d15755197 |
||