Results 121 to 130 of about 6,556 (165)

Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy. [PDF]

Front Mol Med
Hachmann M, Gülcan G, Rajendran R, Höring M, Liebisch G, Bachhuka A, Kohlhaas M, Maack C, Ergün S, Dudek J, Karnati S.   +10 more
europepmc   +1 more source

Reduced protein kinase C delta in a high molecular weight complex in mitochondria and elevated creatine uptake into Barth syndrome B lymphoblasts. [PDF]

J Transl Genet Genom
Mejia EM, Sparagna GC, Miller DW, Hatch GM.   +3 more
europepmc   +1 more source

Hypocholesterolemia in Barth Syndrome

, 2009
openaire   +1 more source

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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).
Herbert H Pomerance, James C Huhta
exaly   +3 more sources

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 Vernon, Yana Sandlers
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.
Masakazu Kohda, Atsuhito Takeda, Keiichi Hirono   +2 more
exaly   +3 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
openaire   +3 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
openaire   +2 more sources

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