Results 71 to 80 of about 505 (112)

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

SS-31 treatment ameliorates cardiac mitochondrial morphology and defective mitophagy in a murine model of Barth syndrome

Scientific Reports
Barth syndrome (BTHS) is a lethal rare genetic disorder, which results in cardiac dysfunction, severe skeletal muscle weakness, immune issues and growth delay.
Silvia Russo, Domenico De Rasmo, Roberta Rossi, Anna Signorile, Simona Lobasso   +4 more
doaj   +1 more source

Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·To analyze the clinical and genetic characteristics of Chinese pediatric patients with Barth syndrome (BTHS) and provide data to support the prevention and treatment of BTHS.Methods·Eighteen pediatric patients diagnosed with BTHS at Shanghai ...
ZHAN Tianliu, YAN Zihang, WU Jinjin, CHEN Hao, CHEN Lijun, CHEN Yiwei, FU Lijun   +6 more
doaj   +1 more source

Corrigendum: Re-expression of tafazzin isoforms in TAZ-deficient C6 glioma cells restores cardiolipin composition but not proliferation rate and alterations in gene expression

Frontiers in Genetics, 2022
Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel   +11 more
doaj   +1 more source

Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders. [PDF]

J Innate Immun
Wolf A, Montanelli G, Mathis D, Felser A, Laemmle A, Nuoffer JM, Gautschi M, Bourquin C, Stojkov D.   +8 more
europepmc   +1 more source

A novel <i>TAFAZZIN</i> gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report. [PDF]

Front Pediatr
Krawiec M, Śliwka J, Pawlak S, Kapałka M, Hamerling P, Grzywacz W, Hawel W, Skórska G, Piekutowska-Abramczuk D, Hrapkowicz T.   +9 more
europepmc   +1 more source

Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models. [PDF]

EMBO Mol Med
Passadouro AS, Balfoort BM, Langeveld M, van Karnebeek CDM, van der Velden J, Houtkooper RH, Mosegaard S.   +6 more
europepmc   +1 more source

Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome. [PDF]

Stem Cell Rev Rep
Sierra Potchanant EA, Capitano ML, Edwards DM, Ramdas B, Cooper S, Ropa J, Pay SL, Sheth A, Snider PL, Vernon HJ, Tran NT, Kapur R, Conway SJ.   +12 more
europepmc   +1 more source