New clinical and molecular insights on Barth syndrome

被引：0
|
作者：
Lorenzo Ferri
Maria Alice Donati
Silvia Funghini
Sabrina Malvagia
Serena Catarzi
Licia Lugli
Luca Ragni
Enrico Bertini
Frédéréc M Vaz
David N Cooper
Renzo Guerrini
Amelia Morrone
机构：
[1] University of Florence and Paediatric Neurology Unit and Laboratories,Department of Neurosciences, Psychology, Pharmacology and Child Health
[2] Meyer Children’s Hospital,Metabolic and Muscular Unit, Neuroscience Department
[3] Meyer Childrens’ Hospital,Paediatric Neurology Unit and Laboratories, Neuroscience Department
[4] Meyer Children’s Hospital,Neonatology Unit, Department of Mother & Child
[5] University of Modena,Department of Neurosciences, Laboratory of Molecular Medicine
[6] University of Bologna and Azienda Ospedaliera S. Orsola Malpighi,undefined
[7] Bambino Gesu’ Children’s Research Hospital,undefined
[8] Department of Clinical Chemistry and Paediatrics,undefined
[9] Institute of Medical Genetics,undefined
[10] School of Medicine,undefined
[11] Cardiff University,undefined
[12] IRRCS,undefined
来源：
Orphanet Journal of Rare Diseases | / 8卷
关键词：
Barth syndrome; gene mutation; cardiomyopathy; Metabolic decompensation; Lactic acidosis; 3-methylglutaconic aciduria; Gross deletions; Metabolic cardiomyopathy;
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