000 01412 a2200445 4500
005 20250516092808.0
264 0 _c20130129
008 201301s 0 0 eng d
022 _a1096-7206
024 7 _a10.1016/j.ymgme.2012.04.010
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aKimonis, V E
245 0 0 _aMild fumarase deficiency and a trial of low protein diet.
_h[electronic resource]
260 _bMolecular genetics and metabolism
_cSep 2012
300 _a241-2 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aBlood Chemical Analysis
650 0 4 _aBrain
_xpathology
650 0 4 _aChild
650 0 4 _aDiet, Protein-Restricted
650 0 4 _aElectroencephalography
650 0 4 _aFemale
650 0 4 _aFumarate Hydratase
_xdeficiency
650 0 4 _aHumans
650 0 4 _aMetabolism, Inborn Errors
_xdiagnosis
650 0 4 _aMuscle Hypotonia
_xdiagnosis
650 0 4 _aMutation
650 0 4 _aNeuroimaging
650 0 4 _aPsychomotor Disorders
_xdiagnosis
700 1 _aSteller, J
700 1 _aSahai, I
700 1 _aGrange, D K
700 1 _aShoemaker, J
700 1 _aZelaya, B M
700 1 _aMandell, R
700 1 _aShih, K
700 1 _aShih, V
773 0 _tMolecular genetics and metabolism
_gvol. 107
_gno. 1-2
_gp. 241-2
856 4 0 _uhttps://doi.org/10.1016/j.ymgme.2012.04.010
_zAvailable from publisher's website
999 _c21789997
_d21789997