Endothelial, sympathetic, and cardiac function in inherited (6R)-L-Erythro-5,6,7,8-Tetrahydro-L-Biopterin deficiency

Circulation: Cardiovascular Genetics

Volumn 3, Issue 6, 2010, Pages 513-522

  Mayahi, Lila ^a   Mason, Lydia ^b   Bleasdale Barr, Katherine ^b   Donald, Ann ^e   Trender Gerhard, Iris ^d   Sweeney, Mary G ^d   Davis, Mary B ^d   Wood, Nicholas ^d   Mathias, Christopher J ^b   Watson, Laura ^b   Pellerin, Denis ^f   Heales, Simon ^c   Deanfield, John E ^e   Bhatia, Kailash ^d   Murray Rust, Judith ^g   Hingorani, Aroon D ^h  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^f IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h NONE

Author keywords

DOPA responsive dystonia; Endothelium; Sympathetic function; Tetrahydrobiopterin

Indexed keywords

ADRENALIN; BIOPTERIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; NITRIC OXIDE SYNTHASE; NITROGEN OXIDE; NORADRENALIN;

ADRENERGIC STIMULATION; ADULT; ARTICLE; BLOOD PRESSURE; CARDIAC PATIENT; CLINICAL ARTICLE; CONTROLLED STUDY; DYSTONIA; ECHOCARDIOGRAPHY; FEMALE; GENE MUTATION; HEART FUNCTION; HEART RATE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SYMPATHETIC FUNCTION;

ADAPTATION, PHYSIOLOGICAL; ADOLESCENT; AGE OF ONSET; BIOPTERIN; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DYSTONIC DISORDERS; ENDOTHELIUM, VASCULAR; EPINEPHRINE; GTP CYCLOHYDROLASE; HEART FUNCTION TESTS; HUMANS; MUTATION; NITROGEN OXIDES; NOREPINEPHRINE; SYMPATHETIC NERVOUS SYSTEM;

EID: 79952797791     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.110.957605     Document Type: Article

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