000 01420 a2200457 4500
005 20250513075640.0
264 0 _c19931112
008 199311s 0 0 eng d
022 _a0028-3878
024 7 _a10.1212/wnl.43.10.2044
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aTranchant, C
245 0 0 _aA new peroxisomal disease with impaired phytanic and pipecolic acid oxidation.
_h[electronic resource]
260 _bNeurology
_cOct 1993
300 _a2044-8 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aBrain
_xpathology
650 0 4 _aConsanguinity
650 0 4 _aElectroencephalography
650 0 4 _aFemale
650 0 4 _aGenetic Carrier Screening
650 0 4 _aHereditary Sensory and Motor Neuropathy
_xgenetics
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMicrobodies
_xmetabolism
650 0 4 _aNeural Conduction
650 0 4 _aPedigree
650 0 4 _aPeripheral Nerves
_xphysiopathology
650 0 4 _aPhytanic Acid
_xmetabolism
650 0 4 _aPipecolic Acids
_xmetabolism
700 1 _aAubourg, P
700 1 _aMohr, M
700 1 _aRocchiccioli, F
700 1 _aZaenker, C
700 1 _aWarter, J M
773 0 _tNeurology
_gvol. 43
_gno. 10
_gp. 2044-8
856 4 0 _uhttps://doi.org/10.1212/wnl.43.10.2044
_zAvailable from publisher's website
999 _c8413236
_d8413236