Results 71 to 80 of about 669 (138)

Barth syndrome : a mutational analysis of the BTHS gene

, 1999
Barth syndrome is an X-linked recessive disorder affecting only males. The clinical features of Barth syndrome include cardiomyopathy, endocardial fibroelastosis, neutropenia, hypocholesterolemia, growth retardation, short stature and cyclic acidurias ...
Elliot, Ann M.
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Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

, 2010
OBJECTIVE: Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)
Pennock, M., Gonzalez, I. L., M. Williams, Hastings, R, Pennock, M, Hastings, R., Quarrell, O. W., W. Kulik, Cresswell, J. L., Newbury-Ecob, R. A., Brennan, P, Kulik, W., I. L. Gonzalez, M. Pennock, B. Tsai-Goodman, S. F. Smithson, J. L. Cresswell, Newbury-Ecob, RA, Wanders, R., C. G. Steward, Smithson, S, Steward, C. G., Kulik, W, P. Brennan, Steward, CG, Tsai-Goodman, B, R. Hastings, Williams, M., R. A. Newbury-Ecob, Wanders, R, Quarrell, OW, Tsai-Goodman, B., O. W. Quarrell, Brennan, P., Cresswell, JL, Williams, M, Gonzalez, IL, R. Wanders, Smithson, S. F.   +38 more
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Metabolic alterations in a murine model of Barth syndrome [PDF]

, 2018
Barth syndrome (BTHS) is a rare monogenic disease characterized by cardiomyopathy, skeletal myopathy and neutropenia, caused by mutations in the Xq28 locus.
Laprano, Nicola
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Identification of a Novel Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2015
Mutations in the tafazzin ( TAZ ) gene on chromosome Xq28 are responsible for the Barth syndrome (BTHS) phenotype resulting in a loss of function in the protein tafazzin involved in the transacylation of cardiolipin, an essential mitochondrial ...
Minal Borkar PhD, Sunita Bijarnia-Mahay DCH, DNB, MD, Sudha Kohli PhD, Monica Juneja MD, Yogesh Srivastava M.Sc, Renu Saxena PhD, Ishwar C. Verma FRCP   +6 more
doaj   +1 more source

A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome

, 2009
Barth Syndrome (BTHS) is a rare X-linked recessive inborn error of metabolism, which is characterized by dilated cardiomyopathy, neutropenia, skeletal myopathy and short stature.
Bachou, Theodora, Kattamis, Antonis, Vazeou, Andriani, Giannakopoulos, Aris, Trapali, Christina   +4 more
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Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

Orphanet Journal of Rare Diseases, 2019
Background Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles,
Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers, Alan L. Shields   +7 more
doaj   +1 more source

Barth syndrome (BTHS) – report case [PDF]

Child Neurology, 2015
Joanna Pelc, Elżbieta Czyżyk, Szymon Figurski   +2 more
openaire   +1 more source

Functional exercise capacity, strength, balance and motion reaction time in Barth syndrome

Orphanet Journal of Rare Diseases, 2019
Background Barth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy.
Brittany Hornby, Rebecca McClellan, Lucy Buckley, Kimberley Carson, Tiffany Gooding, Hilary J. Vernon   +5 more
doaj   +1 more source

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

, 2014
Barth syndrome (BTHS) is an X-linked disorder characterised by cardiac and skeletal myopathy, growth delay, neutropenia and 3-methylglutaconic aciduria (3-MGCA).
Qureshi, Shakeel A., Williams, Maggie, Nicol Clayton, Clayton, Nicol, Graham J. Shortland, Lucy Jones, Tsai-Goodman, Beverley, Beverley Tsai‐Goodman, Shakeel A. Qureshi, Bowron, Ann, Ann Bowron, Simon J. R. Heales, Julie Honeychurch, Maggie Williams, Jones, Lucy, Beverley Tsai-Goodman, Heales, Simon J R, Steward, Colin G., Colin G. Steward, Honeychurch, Julie, Shortland, Graham J.   +20 more
core   +1 more source

Temporal evolution of the heart failure phenotype in Barth syndrome and treatment with elamipretide

, 2023
Barth syndrome (BTHS) is a rare genetic disorder caused by pathogenic variants in TAFAZZIN leading to reduced remodeled cardiolipin (CL), a phospholipid essential to mitochondrial function and structure. Cardiomyopathy presents in most patients with BTHS,
Vernon, Hilary J, Sabbah, Hani N, Taylor, Carolyn   +2 more
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