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 |