Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis

Journal of Inherited Metabolic Disease

Volumn 36, Issue 5, 2013, Pages 741-746

  Bowron, Ann ^a,e   Frost, Robert ^b   Powers, Vicki E C ^a   Thomas, Paul H ^a   Heales, Simon J R ^c   Steward, Colin G ^d  

^a UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^b Waters Ltd   (United Kingdom)

^c NHS Foundation Trust   (United Kingdom)

^d BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^e BRISTOL ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARDIOLIPIN; MONOLYSOCARDIOLIPIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BARTH SYNDROME; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DIAGNOSTIC TEST ACCURACY STUDY; ELECTROSPRAY MASS SPECTROMETRY; GENETICS; HUMAN; HUMAN CELL; INFANT; LEUKOCYTE; LIMIT OF QUANTITATION; LIQUID CHROMATOGRAPHY; LIQUID CHROMATOGRAPHY MASS SPECTROMETRY; MASS SPECTROMETRY; PRESCHOOL CHILD; PROTEIN ANALYSIS; REFERENCE VALUE; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY;

ADOLESCENT; BARTH SYNDROME; CARDIOLIPINS; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; HUMANS; INFANT; INFANT, NEWBORN; LEUKOCYTES; TANDEM MASS SPECTROMETRY; YOUNG ADULT;

EID: 84884357549     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9552-4     Document Type: Article

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