| 000 | 02338 a2200709 4500 | ||
|---|---|---|---|
| 005 | 20250515161440.0 | ||
| 264 | 0 | _c20090730 | |
| 008 | 200907s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.20930 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTessa, Alessandra | |
| 245 | 0 | 0 |
_aIdentification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. _h[electronic resource] |
| 260 |
_bHuman mutation _cMay 2009 |
||
| 300 |
_a741-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAmino Acid Transport Systems, Basic _xchemistry |
| 650 | 0 | 4 | _aBiological Transport |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCitrulline _xanalogs & derivatives |
| 650 | 0 | 4 | _aEscherichia coli |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperammonemia _xepidemiology |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMitochondrial Membrane Transport Proteins |
| 650 | 0 | 4 |
_aMutant Proteins _xisolation & purification |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aOrnithine _xblood |
| 650 | 0 | 4 | _aProtein Structure, Secondary |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aFiermonte, Giuseppe | |
| 700 | 1 | _aDionisi-Vici, Carlo | |
| 700 | 1 | _aParadies, Eleonora | |
| 700 | 1 | _aBaumgartner, Matthias R | |
| 700 | 1 | _aChien, Yin-Hsiu | |
| 700 | 1 | _aLoguercio, Carmela | |
| 700 | 1 | _ade Baulny, Helene Ogier | |
| 700 | 1 | _aNassogne, Marie-Cecile | |
| 700 | 1 | _aSchiff, Manuel | |
| 700 | 1 | _aDeodato, Federica | |
| 700 | 1 | _aParenti, Giancarlo | |
| 700 | 1 | _aRutledge, S Lane | |
| 700 | 1 | _aVilaseca, M Antonia | |
| 700 | 1 | _aMelone, Mariarosa A B | |
| 700 | 1 | _aScarano, Gioacchino | |
| 700 | 1 | _aAldamiz-EchevarrÃa, Luiz | |
| 700 | 1 | _aBesley, Guy | |
| 700 | 1 | _aWalter, John | |
| 700 | 1 | _aMartinez-Hernandez, Eugenia | |
| 700 | 1 | _aHernandez, Jose M | |
| 700 | 1 | _aPierri, Ciro L | |
| 700 | 1 | _aPalmieri, Ferdinando | |
| 700 | 1 | _aSantorelli, Filippo M | |
| 773 | 0 |
_tHuman mutation _gvol. 30 _gno. 5 _gp. 741-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.20930 _zAvailable from publisher's website |
| 999 |
_c18684667 _d18684667 |
||