| 000 | 00930 a2200265 4500 | ||
|---|---|---|---|
| 005 | 20250514170335.0 | ||
| 264 | 0 | _c20040406 | |
| 008 | 200404s 0 0 dut d | ||
| 022 | _a0028-2162 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBosch, A M | |
| 245 | 0 | 0 |
_a[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. _h[electronic resource] |
| 260 |
_bNederlands tijdschrift voor geneeskunde _cJan 2004 |
||
| 300 |
_a80-1 p. _bdigital |
||
| 500 | _aPublication Type: English Abstract; Journal Article; Review | ||
| 650 | 0 | 4 |
_aGalactosemias _xcomplications |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aUTP-Hexose-1-Phosphate Uridylyltransferase _xdeficiency |
| 700 | 1 | _aWaterham, H R | |
| 700 | 1 | _aBakker, H D | |
| 773 | 0 |
_tNederlands tijdschrift voor geneeskunde _gvol. 148 _gno. 2 _gp. 80-1 |
|
| 999 |
_c14477450 _d14477450 |
||