000 | 01309 a2200409 4500 | ||
---|---|---|---|
005 | 20250512192329.0 | ||
264 | 0 | _c19670623 | |
008 | 196706s 0 0 eng d | ||
022 | _a0028-4793 | ||
024 | 7 |
_a10.1056/NEJM196705252762101 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBrady, R O | |
245 | 0 | 0 |
_aEnzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. _h[electronic resource] |
260 |
_bThe New England journal of medicine _cMay 1967 |
||
300 |
_a1163-7 p. _bdigital |
||
500 | _aPublication Type: Clinical Trial; Controlled Clinical Trial; Journal Article | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aAngiokeratoma _xgenetics |
650 | 0 | 4 | _aBiopsy |
650 | 0 | 4 | _aEnzymes |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGlycolipids _xmetabolism |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntestinal Mucosa _xenzymology |
650 | 0 | 4 | _aIntestine, Small |
650 | 0 | 4 | _aLipid Metabolism, Inborn Errors |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 | _aTritium |
700 | 1 | _aGal, A E | |
700 | 1 | _aBradley, R M | |
700 | 1 | _aMartensson, E | |
700 | 1 | _aWarshaw, A L | |
700 | 1 | _aLaster, L | |
773 | 0 |
_tThe New England journal of medicine _gvol. 276 _gno. 21 _gp. 1163-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1056/NEJM196705252762101 _zAvailable from publisher's website |
999 |
_c6023448 _d6023448 |