Results 171 to 180 of about 1,622,122 (202)

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

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
openaire   +1 more source

Long-Term Treatment of Barth Syndrome With Pantothenic Acid: A Retrospective Study

Molecular Genetics and Metabolism, 2003
We report on three patients (two are brothers) with confirmed Barth syndrome treated with pantothenic acid. This treatment is still controversial and only one study has reported positive results to date.
Alberto B Burlina, Daniela Toniolo
exaly   +1 more source

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +5 more sources

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
openaire   +3 more sources

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
openaire   +2 more sources

Barth-Syndrom

Monatsschrift Kinderheilkunde, 2000
I. Rost, A. Duroux, D. Toniolo, E. Holinski-Feder, R. Kozlik-Feldmann   +4 more
openaire   +1 more source

Clinical Presentation and Natural History of Barth Syndrome: An Overview.

Journal of Inherited Metabolic Disease, 2022
Hilary J Vernon, Brittany Hornby, Carolyn Taylor   +2 more
exaly