Results 131 to 140 of about 6,529 (164)

Haematological features in Barth syndrome

Current Opinion in Hematology, 2013
This review highlights recent advances concerning pathogenesis, clinical presentation, diagnosis and treatment of Barth syndrome with particular regard to haematological abnormalities (e.g., neutropenia).Directed motility and killing activity of neutrophils is normal in patients with Barth syndrome, but neutrophils and eospinophils show ...
Josef, Finsterer, Marlies, Frank
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Heart Transplantation for Barth Syndrome

Pediatric Cardiology, 1997
Barth syndrome is an X-linked recessive disorder comprising dilated cardiomyopathy, muscular hypotonia, and cyclical neutropenia. Affected children usually die during infancy as a consequence of septicemia, cardiac failure, or both. We report a patient with Barth syndrome who underwent successful heart transplantation.
S S, Adwani, B F, Whitehead, P G, Rees, A, Morris, D M, Turnball, M J, Elliott, M R, de Leval   +6 more
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Cardiolipin metabolism and Barth Syndrome

Progress in Lipid Research, 2006
Many advances have occurred in the field of Barth Syndrome biology in the 26 years since it was first described as an X-linked cardiomyopathy. Barth Syndrome is the first human disease recognized in which the primary causative factor is an alteration in cardiolipin remodeling. Cardiolipin is required for the optimal function of many proteins within the
Kristin D, Hauff, Grant M, Hatch
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Barth syndrome in a female patient

Molecular Genetics and Metabolism, 2012
BACKGROUND: Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin.
Cosson, Laure, Toutain, Annick, Simard, Gilles, Kulik, Willem, Matyas, Gabor, Guichet, Agnès, Blasco, Hélène, Maakaroun-Vermesse, Zoha, Vaillant, Marie-Catherine, Le Caignec, Cédric, Chantepie, Alain, Labarthe, François   +11 more
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Barth Syndrome and Neutropenia

Blood, 2013
Abstract Barth syndrome is an X-linked, hereditary cause for neutropenia, cardiomyopathy, muscle weakness and growth retardation. It is attributable to mutations of TAZ, a gene encoding a highly conserved acyltransferase necessary for the maintenance of the phospholipids of the inner layers of mitochrondrial membranes.
David C. Dale, Audrey Anna Bolyard, Tracy M. Marrero, Mary Ann Bonilla, Lan Phan, Colin Steward   +5 more
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Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome

Annals of Neurology, 2002
AbstractBarth syndrome is an X‐linked cardiac and skeletal mitochondrial myopathy. Barth syndrome may be due to lipid alterations because the product of the mutated gene is homologous to phospholipid acyltransferases. Here we document that a single mitochondrial phospholipid species, tetralinoleoyl‐cardiolipin, was lacking in the skeletal muscle (n = 2)
Michael, Schlame, Jeffrey A, Towbin, Paul M, Heerdt, Roswitha, Jehle, Salvatore, DiMauro, Thomas J J, Blanck   +5 more
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Cardiac and Clinical Phenotype in Barth Syndrome

Pediatrics, 2006
OBJECTIVE. Barth syndrome, an X-linked disorder that is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria.
Carolyn T, Spencer, Randall M, Bryant, Jane, Day, Iris L, Gonzalez, Steven D, Colan, W Reid, Thompson, Julie, Berthy, Sharon P, Redfearn, Barry J, Byrne   +8 more
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Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

Biochemical and Biophysical Research Communications, 2000
Cardiolipin (CL) and phosphatidylglycerol (PG) are the major polyglycerophospholipids observed in mammalian tissues. CL is exclusively found in the inner mitochondrial membrane and is required for optimal function of many of the respiratory and ATP-synthesizing enzymes.
Vreken, P., Valianpour, F., Nijtmans, L.G.J., Grivell, L.A., Plecko, B., Wanders, R.J.A., Barth, P.G.   +6 more
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Barth syndrome without 3‐methylglutaconic aciduria

Acta Paediatrica, 2004
Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3‐methylglutaconic (3‐mgc) aciduria. 3‐mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. Conclusion: A case of confirmed BTHS, but without 3‐mgc aciduria, emphasizes the importance of extensive investigations in cases with ...
Schmidt, M Rahbek, Birkebaek, N, Gonzalez, I, Sunde, L; id_orcid 0000-0002-8479-165X   +3 more
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Eponym

European Journal of Pediatrics, 2011
Barth syndrome (OMIM #302060) (BTHS) is an X-linked disorder of lipid metabolism characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ), which lead to decreased production of an enzyme required to produce cardiolipin, a component of the inner mitochondrial membrane ...
Atsuhito, Takeda, Akira, Sudo, Masafumi, Yamada, Hirokuni, Yamazawa, Gaku, Izumi, Ichizo, Nishino, Tadashi, Ariga   +6 more
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