000 01941 a2200601 4500
005 20250514225608.0
264 0 _c20050829
008 200508s 0 0 eng d
022 _a0002-9297
024 7 _a10.1086/431313
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSchwartz, Charles E
245 0 0 _aAllan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cJul 2005
300 _a41-53 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAged
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aChromosomes, Human, X
650 0 4 _aDevelopmental Disabilities
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aInfant, Newborn
650 0 4 _aMale
650 0 4 _aX-Linked Intellectual Disability
_xgenetics
650 0 4 _aMiddle Aged
650 0 4 _aMonocarboxylic Acid Transporters
_xgenetics
650 0 4 _aMuscle Weakness
_xgenetics
650 0 4 _aMutation
650 0 4 _aParaplegia
_xgenetics
650 0 4 _aPedigree
650 0 4 _aSymporters
700 1 _aMay, Melanie M
700 1 _aCarpenter, Nancy J
700 1 _aRogers, R Curtis
700 1 _aMartin, Judith
700 1 _aBialer, Martin G
700 1 _aWard, Jewell
700 1 _aSanabria, Javier
700 1 _aMarsa, Silvana
700 1 _aLewis, James A
700 1 _aEcheverri, Roberto
700 1 _aLubs, Herbert A
700 1 _aVoeller, Kytja
700 1 _aSimensen, Richard J
700 1 _aStevenson, Roger E
773 0 _tAmerican journal of human genetics
_gvol. 77
_gno. 1
_gp. 41-53
856 4 0 _uhttps://doi.org/10.1086/431313
_zAvailable from publisher's website
999 _c15552098
_d15552098