000 | 02544 a2200781 4500 | ||
---|---|---|---|
005 | 20250517160825.0 | ||
264 | 0 | _c20180608 | |
008 | 201806s 0 0 eng d | ||
022 | _a1530-0366 | ||
024 | 7 |
_a10.1038/gim.2017.41 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aWong, Sunnie Yan-Wai | |
245 | 0 | 0 |
_aOral D-galactose supplementation in PGM1-CDG. _h[electronic resource] |
260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c11 2017 |
||
300 |
_a1226-1235 p. _bdigital |
||
500 | _aPublication Type: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural | ||
650 | 0 | 4 | _aAdministration, Oral |
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aBlood Coagulation |
650 | 0 | 4 |
_aBlood Glucose _xmetabolism |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 |
_aCreatine Kinase _xblood |
650 | 0 | 4 | _aDose-Response Relationship, Drug |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGalactose _xadministration & dosage |
650 | 0 | 4 |
_aGlycogen Storage Disease _xdrug therapy |
650 | 0 | 4 |
_aGlycoproteins _xmetabolism |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aPhosphoglucomutase _xmetabolism |
650 | 0 | 4 | _aPilot Projects |
650 | 0 | 4 | _aProspective Studies |
650 | 0 | 4 |
_aSkin _xcytology |
650 | 0 | 4 |
_aTransferrin _xmetabolism |
650 | 0 | 4 | _aYoung Adult |
700 | 1 | _aGadomski, Therese | |
700 | 1 | _avan Scherpenzeel, Monique | |
700 | 1 | _aHonzik, Tomas | |
700 | 1 | _aHansikova, Hana | |
700 | 1 | _aHolmefjord, Katja S Brocke | |
700 | 1 | _aMork, Marit | |
700 | 1 | _aBowling, Francis | |
700 | 1 | _aSykut-Cegielska, Jolanta | |
700 | 1 | _aKoch, Dieter | |
700 | 1 | _aHertecant, Jozef | |
700 | 1 | _aPreston, Graeme | |
700 | 1 | _aJaeken, Jaak | |
700 | 1 | _aPeeters, Nicole | |
700 | 1 | _aPerez, Stefanie | |
700 | 1 | _aNguyen, David Do | |
700 | 1 | _aCrivelly, Kea | |
700 | 1 | _aEmmerzaal, Tim | |
700 | 1 | _aGibson, K Michael | |
700 | 1 | _aRaymond, Kimiyo | |
700 | 1 | _aAbu Bakar, Nurulamin | |
700 | 1 | _aFoulquier, Francois | |
700 | 1 | _aPoschet, Gernot | |
700 | 1 | _aAckermann, Amanda M | |
700 | 1 | _aHe, Miao | |
700 | 1 | _aLefeber, Dirk J | |
700 | 1 | _aThiel, Christian | |
700 | 1 | _aKozicz, Tamas | |
700 | 1 | _aMorava, Eva | |
773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 19 _gno. 11 _gp. 1226-1235 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2017.41 _zAvailable from publisher's website |
999 |
_c27280248 _d27280248 |