Results 51 to 60 of about 7,513 (190)

Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition

open access: yesMembranes, 2022
The pathogenic variant of the TAZ gene is directly associated with Barth syndrome. Because tafazzin in the mitochondria is responsible for cardiolipin (CL) remodeling, all molecules related to the metabolism of CL can affect or be affected by TAZ ...
I Chu   +6 more
doaj   +1 more source

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

open access: yesEuropean 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   +5 more
wiley   +1 more source

sj-docx-1-trd-10.1177_26330040221093743 – Supplemental material for Quality of life in Barth syndrome

open access: yes, 2022
Supplemental material, sj-docx-1-trd-10.1177_26330040221093743 for Quality of life in Barth syndrome by Alexander Y. Kim, Hilary Vernon, Ryan Manuel, Mohammed Almuqbil and Brittany Hornby in Therapeutic Advances in Rare ...
Alexander Y. Kim (4408057)   +4 more
core   +1 more source

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

open access: yesClinical 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   +5 more
wiley   +1 more source

Psychosocial Functioning in Youth With Barth Syndrome [PDF]

open access: yesChildren's Health Care, 2009
This pilot study assessed the quality of life and psychosocial functioning of pediatric patients with Barth Syndrome. Thirty-four boys with Barth Syndrome and 22 healthy male controls were administered a measure of verbal ability and completed measures of quality of life, loneliness, perceived peer support, and sibling relationship quality.
Eric A, Storch   +7 more
openaire   +2 more sources

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

open access: yesEuropean 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   +7 more
wiley   +1 more source

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

open access: yesOrphanet Journal of Rare Diseases, 2021
Background Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males.
Aidan Searle   +5 more
doaj   +1 more source

Bacterial Extracellular Vesicles (BEVs) Derived from Chryseobacterium Inhibit Dengue Virus Infection by Disrupting Its Structural Integrity

open access: yesJournal of Extracellular Vesicles, Volume 15, Issue 6, June 2026.
This study elucidates a novel antiviral mechanism of bacterial BEVs, which are shown to inactivate viruses by triggering membrane fusion, subsequent lysis and causing structural collapse. This direct virucidal action presents a promising broad‐spectrum strategy against diverse enveloped viruses.
Yaqi Gao   +15 more
wiley   +1 more source

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

open access: yesFrontiers 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   +6 more
doaj   +1 more source

A Drosophila model of Barth syndrome [PDF]

open access: yesProceedings 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   +6 more
openaire   +2 more sources

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