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