000 01484 a2200457 4500
005 20250513033926.0
264 0 _c19950817
008 199508s 0 0 eng d
022 _a0141-8955
024 7 _a10.1007/BF00711677
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aDumoulin, R
245 0 0 _aHuman cultured myoblasts: a model for the diagnosis of mitochondrial diseases.
_h[electronic resource]
260 _bJournal of inherited metabolic disease
_c1993
300 _a545-7 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aCarnitine O-Palmitoyltransferase
_xdeficiency
650 0 4 _aCells, Cultured
650 0 4 _aChild
650 0 4 _aDNA, Mitochondrial
_xmetabolism
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aKetoglutarate Dehydrogenase Complex
_xdeficiency
650 0 4 _aMale
650 0 4 _aMitochondrial Myopathies
_xdiagnosis
650 0 4 _aMuscle, Skeletal
_xpathology
650 0 4 _aPoint Mutation
700 1 _aMandon, G
700 1 _aCollombet, J M
700 1 _aBlond, J L
700 1 _aCarrier, H
700 1 _aGodinot, C
700 1 _aFlocard, F
700 1 _aVillard, J
700 1 _aGuibaud, P
700 1 _aMathieu, M
773 0 _tJournal of inherited metabolic disease
_gvol. 16
_gno. 3
_gp. 545-7
856 4 0 _uhttps://doi.org/10.1007/BF00711677
_zAvailable from publisher's website
999 _c7608887
_d7608887