Results 201 to 210 of about 41,331 (231)
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Haematological features in Barth syndrome
Current Opinion in Hematology, 2013This 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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Barth syndrome without 3‐methylglutaconic aciduria
Acta Paediatrica, 2004Barth 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 +3 more
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Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome
Annals of Neurology, 2002AbstractBarth 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
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Barth Syndrome and Neutropenia
Blood, 2013Abstract 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 +5 more
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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 +6 more
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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 +6 more
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Barth Syndrome: Different Approaches to Diagnosis
The Journal of Pediatrics, 2018The diagnosis of Barth syndrome is challenging owing to the wide phenotypic spectrum with allelic heterogeneity. Here we report 3 cases of Barth syndrome with phenotypic and allelic heterogeneity that were diagnosed by different approaches, including whole exome sequencing and final confirmation by reverse-transcription polymease chain reaction.
Atsuko, Imai-Okazaki +18 more
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Cardiac and Clinical Phenotype in Barth Syndrome
Pediatrics, 2006OBJECTIVE. 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.
Barry J Byrne
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Barth syndrome in a female patient
Molecular Genetics and Metabolism, 2012Barth 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 +11 more
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Clinical laboratory studies in Barth Syndrome
Molecular Genetics and Metabolism, 2014Barth Syndrome is a rare X-linked disorder characterized principally by dilated cardiomyopathy, skeletal myopathy and neutropenia and caused by defects in tafazzin, an enzyme responsible for modifying the acyl chain moieties of cardiolipin. While several comprehensive clinical studies of Barth Syndrome have been published detailing cardiac and ...
Hilary J, Vernon +3 more
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