Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis

Journal of Inherited Metabolic Disease

Volumn 37, Issue 2, 2014, Pages 207-213

  Al Thihli, Khalid ^a   Sinclair, Graham ^a   Sirrs, Sandra ^b   Mezei, Michelle ^b   Nelson, Judie ^a   Vallance, Hilary ^a  

^a BC CHILDREN S HOSPITAL   (Canada)

^b VANCOUVER GENERAL HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; FATTY ACID;

ADULT; ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; DRIED BLOOD SPOT ACYLCARNITINE TESTING; DRIED BLOOD SPOT TESTING; FATTY ACID BETA OXIDATION DISORDER; FATTY ACID OXIDATION; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MIDDLE AGED; RETROSPECTIVE STUDY; RHABDOMYOLYSIS; SENSITIVITY AND SPECIFICITY; SERUM ACYLCARNITINE TESTING; YOUNG ADULT; ADOLESCENT; ANALOGS AND DERIVATIVES; BIOPSY; BLOOD; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; METABOLISM; OXIDATION REDUCTION REACTION; PROCEDURES;

ADOLESCENT; ADULT; BIOPSY; CARNITINE; CARNITINE O-PALMITOYLTRANSFERASE; DRIED BLOOD SPOT TESTING; FATTY ACIDS; FEMALE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; OXIDATION-REDUCTION; RETROSPECTIVE STUDIES; RHABDOMYOLYSIS; YOUNG ADULT;

EID: 84898825491     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9578-7     Document Type: Article

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