000 | 02274 a2200721 4500 | ||
---|---|---|---|
005 | 20250518081139.0 | ||
264 | 0 | _c20210201 | |
008 | 202102s 0 0 eng d | ||
022 | _a1750-1172 | ||
024 | 7 |
_a10.1186/s13023-019-1276-1 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aPugliese, Michael | |
245 | 0 | 0 |
_aOutcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review. _h[electronic resource] |
260 |
_bOrphanet journal of rare diseases _c01 2020 |
||
300 |
_a12 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review | ||
650 | 0 | 4 |
_aAcyl-CoA Dehydrogenase _xdeficiency |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aLipid Metabolism, Inborn Errors _xenzymology |
650 | 0 | 4 |
_aPhenylketonurias _xenzymology |
650 | 0 | 4 | _aRare Diseases |
700 | 1 | _aTingley, Kylie | |
700 | 1 | _aChow, Andrea | |
700 | 1 | _aPallone, Nicole | |
700 | 1 | _aSmith, Maureen | |
700 | 1 | _aRahman, Alvi | |
700 | 1 | _aChakraborty, Pranesh | |
700 | 1 | _aGeraghty, Michael T | |
700 | 1 | _aIrwin, Julie | |
700 | 1 | _aTessier, Laure | |
700 | 1 | _aNicholls, Stuart G | |
700 | 1 | _aOffringa, Martin | |
700 | 1 | _aButcher, Nancy J | |
700 | 1 | _aIverson, Ryan | |
700 | 1 | _aClifford, Tammy J | |
700 | 1 | _aStockler, Sylvia | |
700 | 1 | _aHutton, Brian | |
700 | 1 | _aPaik, Karen | |
700 | 1 | _aTao, Jessica | |
700 | 1 | _aSkidmore, Becky | |
700 | 1 | _aCoyle, Doug | |
700 | 1 | _aDuddy, Kathleen | |
700 | 1 | _aDyack, Sarah | |
700 | 1 | _aGreenberg, Cheryl R | |
700 | 1 | _aGhai, Shailly Jain | |
700 | 1 | _aKarp, Natalya | |
700 | 1 | _aKorngut, Lawrence | |
700 | 1 | _aKronick, Jonathan | |
700 | 1 | _aMacKenzie, Alex | |
700 | 1 | _aMacKenzie, Jennifer | |
700 | 1 | _aMaranda, Bruno | |
700 | 1 | _aMitchell, John J | |
700 | 1 | _aPotter, Murray | |
700 | 1 | _aPrasad, Chitra | |
700 | 1 | _aSchulze, Andreas | |
700 | 1 | _aSparkes, Rebecca | |
700 | 1 | _aTaljaard, Monica | |
700 | 1 | _aTrakadis, Yannis | |
700 | 1 | _aWalia, Jagdeep | |
700 | 1 | _aPotter, Beth K | |
773 | 0 |
_tOrphanet journal of rare diseases _gvol. 15 _gno. 1 _gp. 12 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1186/s13023-019-1276-1 _zAvailable from publisher's website |
999 |
_c30518257 _d30518257 |