000 | 01528 a2200457 4500 | ||
---|---|---|---|
005 | 20250513151154.0 | ||
264 | 0 | _c19981026 | |
008 | 199810s 0 0 eng d | ||
022 | _a0148-7299 | ||
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aHinson, D D | |
245 | 0 | 0 |
_aHematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics _cAug 1998 |
||
300 |
_a408-12 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
650 | 0 | 4 | _aAnemia |
650 | 0 | 4 |
_aCholestasis, Intrahepatic _xgenetics |
650 | 0 | 4 |
_aCholesterol _xmetabolism |
650 | 0 | 4 |
_aHematologic Diseases _xgenetics |
650 | 0 | 4 | _aHepatomegaly |
650 | 0 | 4 | _aHeterozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aHyperbilirubinemia |
650 | 0 | 4 | _aInfant, Newborn |
650 | 0 | 4 | _aLeukocytosis |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMetabolism, Inborn Errors _xgenetics |
650 | 0 | 4 |
_aMevalonic Acid _xblood |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aPhosphotransferases (Alcohol Group Acceptor) _xdeficiency |
650 | 0 | 4 | _aSplenomegaly |
650 | 0 | 4 | _aThrombocytopenia |
700 | 1 | _aRogers, Z R | |
700 | 1 | _aHoffmann, G F | |
700 | 1 | _aSchachtele, M | |
700 | 1 | _aFingerhut, R | |
700 | 1 | _aKohlschutter, A | |
700 | 1 | _aKelley, R I | |
700 | 1 | _aGibson, K M | |
773 | 0 |
_tAmerican journal of medical genetics _gvol. 78 _gno. 5 _gp. 408-12 |
|
999 |
_c9679512 _d9679512 |