Natural history of Barth syndrome: A national cohort study of 22 patients

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Rigaud, Charlotte ^a   Lebre, Anne Sophie ^b   Touraine, Renaud ^c   Beaupain, Blandine ^a   Ottolenghi, Chris ^b   Chabli, Allel ^b   Ansquer, Helene ^d   Ozsahin, Hulya ^e   Di Filippo, Sylvie ^f   De Lonlay, Pascale ^b   Borm, Betina ^g   Rivier, Francois ^h   Vaillant, Marie Catherine ⁱ   Mathieu Dramard, Michèle ^j   Goldenberg, Alice ^k   Viot, Géraldine ^l   Charron, Philippe ^m   Rio, Marlene ^b   Bonnet, Damien ^b   Donadieu, Jean ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c Centre Hospitalo Universitaire   (France)

^d BREST UNIVERSITY HOSPITAL   (France)

^e Hopital des Enfants Hopitaux universitaires de Geneve   (Switzerland)

^f LOUIS PRADEL HOSPITAL   (France)

^g Centre Hospitalier Beziers   (France)

^h GUI DE CHAULIAC HOSPITAL   (France)

ⁱ UNIVERSITY HOSPITAL OF TOURS   (France)

^j AMIENS UNIVERSITY HOSPITAL   (France)

^k ROUEN UNIVERSITY HOSPITAL   (France)

^l NONE   (France)

^m PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

more..

Author keywords

Barth syndrome; Cardiomyopathy; Cohort; Neutropenia; TAZ gene

Indexed keywords

ARGININE;

ACIDURIA; ADOLESCENT; ARTICLE; BARTH SYNDROME; BIRTH; BLOOD LEVEL; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; DISEASE SEVERITY; FEMALE; FOLLOW UP; GENE MUTATION; HEART TRANSPLANTATION; HUMAN; INCIDENCE; INFECTION RISK; LEFT VENTRICULAR SYSTOLIC DYSFUNCTION; MALE; MEDICAL RECORD; NEUTROPENIA; PEDIGREE; SURVIVAL RATE;

ADOLESCENT; BARTH SYNDROME; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; FRANCE; HUMANS; MALE; MUTATION; NEUTROPENIA; PEDIGREE; SURVIVAL RATE; TRANSCRIPTION FACTORS;

EID: 84878098120     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-70     Document Type: Article

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