| 000 | 02413 a2200877 4500 | ||
|---|---|---|---|
| 005 | 20250518035037.0 | ||
| 264 | 0 | _c20191125 | |
| 008 | 201911s 0 0 eng d | ||
| 022 | _a1750-1172 | ||
| 024 | 7 |
_a10.1186/s13023-019-1047-z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRubio-Gozalbo, M E | |
| 245 | 0 | 0 |
_aThe natural history of classic galactosemia: lessons from the GalNet registry. _h[electronic resource] |
| 260 |
_bOrphanet journal of rare diseases _c04 2019 |
||
| 300 |
_a86 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGalactosemias _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aNeonatal Screening |
| 650 | 0 | 4 | _aRegistries |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 |
_aUTP-Hexose-1-Phosphate Uridylyltransferase _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aHaskovic, M | |
| 700 | 1 | _aBosch, A M | |
| 700 | 1 | _aBurnyte, B | |
| 700 | 1 | _aCoelho, A I | |
| 700 | 1 | _aCassiman, D | |
| 700 | 1 | _aCouce, M L | |
| 700 | 1 | _aDawson, C | |
| 700 | 1 | _aDemirbas, D | |
| 700 | 1 | _aDerks, T | |
| 700 | 1 | _aEyskens, F | |
| 700 | 1 | _aForga, M T | |
| 700 | 1 | _aGrunewald, S | |
| 700 | 1 | _aHäberle, J | |
| 700 | 1 | _aHochuli, M | |
| 700 | 1 | _aHubert, A | |
| 700 | 1 | _aHuidekoper, H H | |
| 700 | 1 | _aJaneiro, P | |
| 700 | 1 | _aKotzka, J | |
| 700 | 1 | _aKnerr, I | |
| 700 | 1 | _aLabrune, P | |
| 700 | 1 | _aLandau, Y E | |
| 700 | 1 | _aLangendonk, J G | |
| 700 | 1 | _aMöslinger, D | |
| 700 | 1 | _aMüller-Wieland, D | |
| 700 | 1 | _aMurphy, E | |
| 700 | 1 | _aÕunap, K | |
| 700 | 1 | _aRamadza, D | |
| 700 | 1 | _aRivera, I A | |
| 700 | 1 | _aScholl-Buergi, S | |
| 700 | 1 | _aStepien, K M | |
| 700 | 1 | _aThijs, A | |
| 700 | 1 | _aTran, C | |
| 700 | 1 | _aVara, R | |
| 700 | 1 | _aVisser, G | |
| 700 | 1 | _aVos, R | |
| 700 | 1 | _ade Vries, M | |
| 700 | 1 | _aWaisbren, S E | |
| 700 | 1 | _aWelsink-Karssies, M M | |
| 700 | 1 | _aWortmann, S B | |
| 700 | 1 | _aGautschi, M | |
| 700 | 1 | _aTreacy, E P | |
| 700 | 1 | _aBerry, G T | |
| 773 | 0 |
_tOrphanet journal of rare diseases _gvol. 14 _gno. 1 _gp. 86 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s13023-019-1047-z _zAvailable from publisher's website |
| 999 |
_c29631866 _d29631866 |
||