| 000 | 01336 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250513085711.0 | ||
| 264 | 0 | _c19960419 | |
| 008 | 199604s 0 0 eng d | ||
| 022 | _a0148-7299 | ||
| 024 | 7 |
_a10.1002/ajmg.1320590315 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFujimoto, A | |
| 245 | 0 | 0 |
_aCongenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics _cNov 1995 |
||
| 300 |
_a356-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAmniocentesis |
| 650 | 0 | 4 |
_aCeramides _xmetabolism |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 |
_aEpidermis _xmetabolism |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFetal Diseases _xdiagnosis |
| 650 | 0 | 4 |
_aGaucher Disease _xclassification |
| 650 | 0 | 4 |
_aGlucosylceramidase _xanalysis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIchthyosis _xdiagnosis |
| 650 | 0 | 4 |
_aIchthyosis, X-Linked _xdiagnosis |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPrognosis |
| 700 | 1 | _aTayebi, N | |
| 700 | 1 | _aSidransky, E | |
| 773 | 0 |
_tAmerican journal of medical genetics _gvol. 59 _gno. 3 _gp. 356-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.1320590315 _zAvailable from publisher's website |
| 999 |
_c8598409 _d8598409 |
||