Results 151 to 160 of about 7,513 (190)

Hypocholesterolemia in Barth Syndrome

, 2009
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Clinical laboratory studies in Barth Syndrome

Molecular Genetics and Metabolism, 2014
Barth 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, Yana Sandlers, Rebecca Mcclellan   +2 more
exaly   +4 more sources

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, Joseph, Sullivan, John B, Weigele, Vivian, Hwang, Steven R, Messé, Scott E, Kasner, David S, Liebeskind   +6 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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CLINICOPATHOLOGIC CONFERENCE: BARTH SYNDROME

Fetal and Pediatric Pathology, 2005
A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).
James C Huhta, Herbert H Pomerance
exaly   +3 more sources

Barth Syndrome: Different Approaches to Diagnosis

Journal of Pediatrics, 2018
The 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, Yoshihito Kishita, Masakazu Kohda   +2 more
exaly   +3 more sources

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics, 1997
SummaryBarth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. We have now evaluated 14 Barth syndrome
Richard I Kelley, Annette Feigenbaum, Gerald F Cox   +2 more
exaly   +2 more sources

Dysmorphology of Barth syndrome

Clinical Dysmorphology, 2009
Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial description of this condition by Barth et ...
Rob, Hastings, Colin, Steward, Beverly, Tsai-Goodman, Ruth, Newbury-Ecob   +3 more
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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
openaire   +2 more sources

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
openaire   +2 more sources