000 | 01120 a2200337 4500 | ||
---|---|---|---|
005 | 20250512083001.0 | ||
264 | 0 | _c19850528 | |
008 | 198505s 0 0 eng d | ||
022 | _a0148-7299 | ||
024 | 7 |
_a10.1002/ajmg.1320200314 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBlitzer, M G | |
245 | 0 | 0 |
_aA thermolabile variant of alpha-L-fucosidase--clinical and laboratory findings. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics _cMar 1985 |
||
300 |
_a535-9 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 | _aChromatography, Thin Layer |
650 | 0 | 4 |
_aFibroblasts _xenzymology |
650 | 0 | 4 |
_aFucosidosis _xenzymology |
650 | 0 | 4 | _aHot Temperature |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aKinetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aalpha-L-Fucosidase _xgenetics |
700 | 1 | _aSutton, M | |
700 | 1 | _aMiller, J B | |
700 | 1 | _aShapira, E | |
773 | 0 |
_tAmerican journal of medical genetics _gvol. 20 _gno. 3 _gp. 535-9 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.1320200314 _zAvailable from publisher's website |
999 |
_c3999364 _d3999364 |