000 01992 a2200613 4500
005 20250513132337.0
264 0 _c19980319
008 199803s 0 0 eng d
022 _a0002-9297
024 7 _a10.1086/301628
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHuizing, M
245 0 0 _aCloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cDec 1997
300 _a1239-45 p.
_bdigital
500 _aPublication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAmino Acid Sequence
650 0 4 _aAnimals
650 0 4 _aBase Sequence
650 0 4 _aCarnitine
_xmetabolism
650 0 4 _aCells, Cultured
650 0 4 _aChild
650 0 4 _aCloning, Molecular
650 0 4 _aCodon
_xgenetics
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDNA, Complementary
_xgenetics
650 0 4 _aFatty Acids
_xmetabolism
650 0 4 _aFatty Liver
_xgenetics
650 0 4 _aFemale
650 0 4 _aFibroblasts
_xmetabolism
650 0 4 _aGenes
650 0 4 _aHumans
650 0 4 _aIntracellular Membranes
_xmetabolism
650 0 4 _aLipid Metabolism, Inborn Errors
_xgenetics
650 0 4 _aMitochondria
_xmetabolism
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutagenesis, Insertional
650 0 4 _aOpen Reading Frames
_xgenetics
650 0 4 _aOxidation-Reduction
650 0 4 _aRats
650 0 4 _aSpecies Specificity
700 1 _aIacobazzi, V
700 1 _aIjlst, L
700 1 _aSavelkoul, P
700 1 _aRuitenbeek, W
700 1 _avan den Heuvel, L
700 1 _aIndiveri, C
700 1 _aSmeitink, J
700 1 _aTrijbels, F
700 1 _aWanders, R
700 1 _aPalmieri, F
773 0 _tAmerican journal of human genetics
_gvol. 61
_gno. 6
_gp. 1239-45
856 4 0 _uhttps://doi.org/10.1086/301628
_zAvailable from publisher's website
999 _c9369560
_d9369560