TY - GEN AU - Merinero,B AU - Pérez-Cerdá,C AU - Ruiz Sala,P AU - Ferrer,I AU - García,M J AU - Martínez Pardo,M AU - Belanger-Quintana,A AU - de la Mota,J L AU - Martin-Hernández,E AU - Vianey-Saban,C AU - Bischoff,C AU - Gregersen,N AU - Ugarte,M TI - Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy SN - 0141-8955 PY - 2007///0117 KW - Brain Diseases KW - diagnosis KW - Butyryl-CoA Dehydrogenase KW - genetics KW - Carnitine KW - analogs & derivatives KW - Humans KW - Malonates KW - urine KW - Mitochondrial Proteins KW - Nervous System Diseases KW - Nucleocytoplasmic Transport Proteins N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1007/s10545-006-0342-8 ER -