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