| 000 | 01621 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250512031455.0 | ||
| 264 | 0 | _c19860710 | |
| 008 | 198607s 0 0 eng d | ||
| 022 | _a0028-4793 | ||
| 024 | 7 |
_a10.1056/NEJM198606193142504 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHoffmann, G | |
| 245 | 0 | 0 |
_aMevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. _h[electronic resource] |
| 260 |
_bThe New England journal of medicine _cJun 1986 |
||
| 300 |
_a1610-4 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 |
_aAmniotic Fluid _xanalysis |
| 650 | 0 | 4 |
_aCataract _xetiology |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCholesterol _xbiosynthesis |
| 650 | 0 | 4 |
_aFailure to Thrive _xetiology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFetal Diseases _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xdiagnosis |
| 650 | 0 | 4 |
_aMevalonic Acid _xanalysis |
| 650 | 0 | 4 |
_aPhosphotransferases _xdeficiency |
| 650 | 0 | 4 | _aPhosphotransferases (Alcohol Group Acceptor) |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 | _aPrenatal Diagnosis |
| 650 | 0 | 4 |
_aSterols _xbiosynthesis |
| 650 | 0 | 4 |
_aTerpenes _xbiosynthesis |
| 700 | 1 | _aGibson, K M | |
| 700 | 1 | _aBrandt, I K | |
| 700 | 1 | _aBader, P I | |
| 700 | 1 | _aWappner, R S | |
| 700 | 1 | _aSweetman, L | |
| 773 | 0 |
_tThe New England journal of medicine _gvol. 314 _gno. 25 _gp. 1610-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1056/NEJM198606193142504 _zAvailable from publisher's website |
| 999 |
_c3018154 _d3018154 |
||