| 000 | 01242 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250512232446.0 | ||
| 264 | 0 | _c19810226 | |
| 008 | 198102s 0 0 eng d | ||
| 022 | _a0009-9163 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.1980.tb00873.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWinter, R M | |
| 245 | 0 | 0 |
_aSialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. _h[electronic resource] |
| 260 |
_bClinical genetics _cSep 1980 |
||
| 300 |
_a203-10 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnostic imaging |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aFibroblasts _xenzymology |
| 650 | 0 | 4 |
_aGangliosidoses _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xenzymology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNeuraminidase _xdeficiency |
| 650 | 0 | 4 |
_aOligosaccharides _xurine |
| 650 | 0 | 4 | _aRadiography |
| 700 | 1 | _aSwallow, D M | |
| 700 | 1 | _aBaraitser, M | |
| 700 | 1 | _aPurkiss, P | |
| 773 | 0 |
_tClinical genetics _gvol. 18 _gno. 3 _gp. 203-10 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.1980.tb00873.x _zAvailable from publisher's website |
| 999 |
_c6776853 _d6776853 |
||