Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders

Clinica Chimica Acta

Volumn 406, Issue 1-2, 2009, Pages 23-26

  Dessein, Anne Frédérique ^a   Fontaine, Monique ^a   Dobbelaere, Dries ^a   Mention Mulliez, Karine ^a   Martin Ponthieu, Annie ^a   Briand, Gilbert ^a,b   Vamecq, Joseph ^c  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIV LILLE   (France)

^c INSERM   (France)

Author keywords

Acylcarnitines; FAOD; MCAD; SCAD; Stable labeled palmitate; Tandem mass spectrometry; VLCAD; Whole blood

Indexed keywords

ACYLCARNITINE; BUTYRYL COENZYME A DEHYDROGENASE; CARNITINE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; PALMITIC ACID;

ADULT; ARTICLE; BIOCHEMISTRY; BLOOD SAMPLING; CHILD; CONTROLLED STUDY; DERIVATIZATION; DIAGNOSTIC VALUE; ELECTROSPRAY MASS SPECTROMETRY; EXTRACTION; FATTY ACID OXIDATION DISORDER; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INCUBATION TIME; INFANT; MAJOR CLINICAL STUDY; MALE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCHOOL CHILD; STORAGE TEMPERATURE; TEMPERATURE; THAWING;

ACYL-COA DEHYDROGENASES; ADULT; BLOOD SPECIMEN COLLECTION; CARNITINE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DEUTERIUM; FATTY ACIDS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KINETICS; MALE; MITOCHONDRIAL DISEASES; MUTATION; OXIDATION-REDUCTION; PALMITATES; TIME FACTORS;

EID: 67650423959     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.04.026     Document Type: Article

References (22)

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