Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults

by Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love, Alan Shields
Published 2021-06-01

"On a good day no one knows": Management of disease impacts in Barth Syndrome

by Mazar, Iyar
Published 2019

Dynamic simulation of cardiolipin remodeling: greasing the wheels for an interpretative approach to lipidomics[S]

by Michael A. Kiebish, Rob Bell, Kui Yang, Toan Phan, Zhongdan Zhao, William Ames, Thomas N. Seyfried, Richard W. Gross, Jeffrey H. Chuang, Xianlin Han
Published 2010-08-01

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

by W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds
Published 2020-12-01

Role of Cardiolipin in Mitochondrial Signaling Pathways

by Jan Dudek
Published 2017-09-01

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

by Aidan Searle, Georgia Herbert, Lucy Dabner, Colin G. Steward, Michaela Damin, Guido Pieles
Published 2021-09-01

Tafazzin Mutation Affecting Cardiolipin Leads to Increased Mitochondrial Superoxide Anions and Mitophagy Inhibition in Barth Syndrome

by Patrice X. Petit, Hector Ardilla-Osorio, Lucile Penalvia, Rainey Nathan E.
Published 2020-10-01

The Effects of PPAR Stimulation on Cardiac Metabolic Pathways in Barth Syndrome Mice

by Caitlin Schafer, Vicky Moore, Nupur Dasgupta, Sabzali Javadov, Jeanne F. James, Jeanne F. James, Alexander I. Glukhov, Alexander I. Glukhov, Arnold W. Strauss, Zaza Khuchua, Zaza Khuchua
Published 2018-04-01

Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults

by Matthew Taylor, Dobromir Slavov, Ernesto Salcedo, Xiao Zhu, Deborah Ferguson, Jean Jirikowic, Andrea Di Lenarda, Gianfranco Sinagra, Luisa Mestroni
Published 2011-07-01

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

by Brittany Hornby, Rebecca McClellan, Lucy Buckley, Kimberley Carson, Tiffany Gooding, Hilary J. Vernon
Published 2019-02-01

Novel Mutations in  the TAZ Gene in  Patients with Barth Syndrome

by S. Mazurová, M. Tesařová, M. Magner, H. Houšťková, H. Hansíková, J. Augustínová, V. Tomek,  A. Vondráčková, J. Zeman, Tomáš Honzík
Published 2013-01-01

Barth Syndrome:From mitochondrial dysfunctions associated with aberrant production of reactive oxygen species to pluripotent stem cell studies

by Ana eSaric, Ana eSaric, Karine eAndreau, Anne-Sophie eArmand, Ian Max Möller, Patrice X. PETIT
Published 2016-01-01

Barth syndrome: mechanisms and management

by Finsterer J
Published 2019-06-01

Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice.

by Corey ePowers, Yan eHuang, Arnold W Strauss, Zaza eKhuchua
Published 2013-04-01

Late diagnosis of Barth syndrome in a 39‐year‐old patient with non‐compaction cardiomyopathy and neutropenia

by Andreas Seitz, Annely Hinck, Raffi Bekeredjian, Udo Sechtem
Published 2020-04-01

BARTH SYNDROME IN PRACTICE OF CARDIOLOGY

by O. V. Melnik, T. S. Loevets, T. L. Vershinina, A. Ya. Gudkova, Yu. V. Fomicheva, A. A. Kostareva, T. M. Pervunina, E. S. Vasichkina
Published 2018-04-01

Metabolic Alterations Caused by Defective Cardiolipin Remodeling in Inherited Cardiomyopathies

by Christina Wasmus, Jan Dudek
Published 2020-11-01

Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes

by Ya-Wen eLu, Steven Michael Claypool
Published 2015-02-01

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

by Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V
Published 2016-12-01

De novo biosynthesis of the late endosome lipid, bis(monoacylglycero)phosphates⃞

by Françoise Hullin-Matsuda, Kiyoshi Kawasaki, Isabelle Delton-Vandenbroucke, Yang Xu, Masahiro Nishijima, Michel Lagarde, Michael Schlame, Toshihide Kobayashi
Published 2007-09-01