Results 51 to 60 of about 6,529 (164)

Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach

Journal of Multidisciplinary Healthcare, 2015
Stacey Reynolds Department of Occupational Therapy, Virginia Commonwealth University, Richmond, VA, USA Abstract: This review describes and summarizes the available evidence related to the treatment and management of Barth syndrome.
Reynolds S
doaj  

A Drosophila model of Barth syndrome [PDF]

Proceedings of the National Academy of Sciences, 2006
Barth syndrome is an X-linked disease presenting with cardiomyopathy and skeletal muscle weakness. It is caused by mutations in tafazzin, a putative acyl transferase that has been associated with altered metabolism of the mitochondrial phospholipid cardiolipin.
Yang, Xu, Morgan, Condell, Heide, Plesken, Irit, Edelman-Novemsky, Jinping, Ma, Mindong, Ren, Michael, Schlame   +6 more
openaire   +2 more sources

Effectiveness of a Low‐Intensity Self‐Guided Psychoeducational Intervention for Individuals Waitlisted for Specialised Eating‐Disorder Treatment: A Randomised Controlled Trial

European Eating Disorders Review, Volume 34, Issue 4, Page 1089-1098, July 2026.
ABSTRACT Objective Gaining access to evidence‐informed treatment for eating disorders (EDs) is challenging, and this creates interest in the possible benefits of self‐help treatment methods. We investigated the effectiveness of receiving evidence‐informed self‐guided psychoeducation, delivered to individuals while on a waitlist for specialised ED care.
Linda Booij, Barbara Barth, Micaël Thériault, Bronwyn Raykos, Peter McEvoy, Howard Steiger   +5 more
wiley   +1 more source

The Influence of Supplemental Dietary Linoleic Acid on Skeletal Muscle Contractile Function in a Rodent Model of Barth Syndrome

Frontiers in Physiology, 2021
Barth syndrome is a rare and incurable X-linked (male-specific) genetic disease that affects the protein tafazzin (Taz). Taz is an important enzyme responsible for synthesizing biologically relevant cardiolipin (for heart and skeletal muscle, cardiolipin
Mario Elkes, Martin Andonovski, Daislyn Vidal, Madison Farago, Ryan Modafferi, Steven M. Claypool, Paul J. LeBlanc   +6 more
doaj   +1 more source

Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)?

Clinical and Public Health Guidelines, Volume 3, Issue 3, July 2026.
ABSTRACT Introduction Developing Clinical Practice Guidelines (CPGs) is resource‐intensive, making it essential to prioritise those CPG projects that are most needed. One of the rules pertains to prevalence, which excludes virtually all guideline development for rare diseases. Still, guidance is needed for their management.
Iméze J. Hieltjes, Charlotte M. W. Gaasterland, Marieke Hermsen, Anne Marie van Wermeskerken, Ilse van Herk, Johanna H. van der Lee   +5 more
wiley   +1 more source

Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome

Stem Cell Research
Barth syndrome is among the most common mitochondrial diseases presenting with cardiomyopathy. We have generated a human embryonic stem cell (hESC) model of Barth syndrome (TAFAZZINΔ3 C15) in a female background (H9 hESC) using CRISPR/Cas9 gene editing ...
Yau Chung Low, Cameron L. McKnight, David A. Elliott, David R. Thorburn, Ann E. Frazier   +4 more
doaj   +1 more source

X Chromosome Inactivation in Carriers of Barth Syndrome [PDF]

The American Journal of Human Genetics, 1998
Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by cardiac and skeletal myopathy, neutropenia, and short stature. A gene for BTHS, G4.5, was recently cloned and encodes several novel proteins, named "tafazzins." Unique mutations have been found.
Orstavik, K.H., Orstavik, R.E., Naumova, A.K., D'Adamo, P., Gedeon, A., Bolhuis, P.A., Barth, P.G., Toniolo, D.   +7 more
openaire   +3 more sources

Aberrant TMPRSS6‐Protease Regulation of Disease Mutant HCN4–KCNE1 Channel Complex Depends on the KCNE1‐G38S Polymorphism

Archiv der Pharmazie, Volume 359, Issue 6, June 2026.
TMPRSS6‐mediated cleavage of the HCN4–KCNE1 channel complex may modulate disease phenotype in a KCNE1 genotype‐dependent manner. ABSTRACT The sinoatrial node pacemaker channel HCN4 plays a central role in cardiac automaticity, and disease‐associated variants can predispose to atrial arrhythmias.
David Linhoff, Minay Mertens, Ricarda Zimmermann, Stefan Peischard, Christoph Brenker, Thomas Budde, Sven Meuth, Christos Gatsogiannis, Annika Lüttjohann, Liudmila Sosulina, Jürgen Hescheler, Nathalie Strutz‐Seebohm, Guiscard Seebohm   +12 more
wiley   +1 more source

Evaluating Continuous Glucose Monitoring (CGM) Derived Glucose Variability in Athletes Clinically Diagnosed With Relative Energy Deficiency in Sport (REDs)

European Journal of Sport Science, Volume 26, Issue 6, June 2026.
ABSTRACT Relative Energy Deficiency in Sport (REDs) is a multifactorial condition with significant long‐term health and performance implications. Acute low energy availability (LEA) may suppress glucose levels, particularly nocturnally; however, this has not been investigated in athletes with clinically diagnosed REDs.
Penelope A. Matkin‐Hussey, Dane F. Baker, Gregory R. Cox, Vernon Coffey, Amy‐Lee Bowler, Sarah Beable, Megan Ogilvie, Katherine E. Black   +7 more
wiley   +1 more source

Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidation. [PDF]

PLoS ONE, 2012
Cardiolipin (CL) is a mitochondrial membrane phospholipid which plays a key role in apoptosis and supports mitochondrial respiratory chain complexes involved in the generation of ATP.
William A Taylor, Edgard M Mejia, Ryan W Mitchell, Patrick C Choy, Genevieve C Sparagna, Grant M Hatch   +5 more
doaj   +1 more source