Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

Journal of inherited metabolic disease

Volumn 29, Issue 5, 2006, Pages 685-

  Merinero, B ^a   Perez Cerda C ^a   Ruiz Sala, P ^a   Ferrer, I ^a   Garcia M J ^a   Martinez Pardo M ^a   Belanger Quintana, A ^a   de la Mota, J L ^a   Martin Hernandez E ^a   Vianey Saban, C ^a   Bischoff, C ^a   Gregersen, N ^a   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE; BUTYRYLCARNITINE; CARNITINE; DRUG DERIVATIVE; ETHE1 PROTEIN, HUMAN; ETHYLMALONIC ACID; ISOBUTYRYL 1 CARNITINE; ISOBUTYRYL-1-CARNITINE; MALONIC ACID DERIVATIVE; MITOCHONDRIAL PROTEIN; NUCLEOCYTOPLASMIC TRANSPORT PROTEIN;

ARTICLE; BLOOD; BRAIN DISEASE; CASE REPORT; GENETICS; HUMAN; NEUROLOGIC DISEASE; URINE;

BRAIN DISEASES; BUTYRYL-COA DEHYDROGENASE; CARNITINE; HUMANS; MALONATES; MITOCHONDRIAL PROTEINS; NERVOUS SYSTEM DISEASES; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS;

EID: 34548738557     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-006-0342-8     Document Type: Article

References (0)