Results 11 to 20 of about 1,622,122 (202)
Orphanet Journal of Rare Diseases, 2013 First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA ...
Clarke Sarah LN +16 more
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Assessing olfactory functions in patients with Barth syndrome. [PDF]
PLoS ONE, 2017 Barth syndrome is a rare X-linked disease affecting less than 200 individuals worldwide. Several comorbidities have been associated with the pathology and, among those, cardiac myopathy and neutropenia are the most life threatening.
Michele Dibattista +3 more
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Stroke Associated With Barth Syndrome
Journal of Child Neurology, 2006 Barth syndrome is an inherited disorder characterized by dilated cardiomyopathy, neutropenia, growth retardation, and skeletal myopathy. We describe a case of acute stroke owing to Barth syndrome that required intra-arterial thrombolysis. This case suggests that cardiovascular complications can be observed in patients with Barth syndrome.
Beau M, Ances +6 more
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Barth syndrome in an adult patient: an overview of the problem and case report. A review [PDF]
Терапевтический архивBarth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications.
Marina D. Muksinova +8 more
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Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach [PDF]
Journal of Multidisciplinary Healthcare, 2015 Stacey Reynolds Department of Occupational Therapy, Virginia Commonwealth University, Richmond, VA, USA Abstract: This review describes and summarizes the available evidence related to the treatment and management of Barth syndrome.
Reynolds S
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A rare clinical association: Barth syndrome and cystic fibrosis [PDF]
The Turkish Journal of Pediatrics, 2019 Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, growth retardation and 3-methylglutaconic aciduria type II.
Elif Sağ +3 more
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BARTH SYNDROME IN PRACTICE OF CARDIOLOGY [PDF]
Российский кардиологический журнал, 2018 Barth syndrome is an X-bound inherited recessive disorder with the prevalenсe 1:300000 — 1:400000 of live bornt, caused by mutations in the gene TAZ; manifesting with dilation cardiomyopathy, neutropenia, proxymal myopathy, delayed physical and motoric ...
O. V. Melnik +7 more
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A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes [PDF]
Disease Models & MechanismsErika Yazawa +7 more
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JIMD Reports, 2022 Cardiomyopathy is the most common presenting feature of Barth syndrome, often presenting in infancy with severe heart failure and cardiac dysfunction. Historically, affected infants commonly died early after presentation, sometimes before a diagnosis of ...
Jessie Yester, Brian Feingold
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Barth syndrome cardiomyopathy [PDF]
Cardiovascular Research, 2017 Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes.
Jan, Dudek, Christoph, Maack
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