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Orphanet Journal of Rare Diseases, 2021 Background Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently ...
Chad Gwaltney +6 more
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Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy [PDF]
Lipids, 2017 AbstractThe Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid‐uria, skeletal muscle weakness and cardiomyopathy.
Nikita, Ikon, Robert O, Ryan
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Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice.
Frontiers in Physiology, 2013 The phospholipid, cardiolipin, is essential for maintaining mitochondrial structure and optimal function. Cardiolipin-deficiency in humans, Barth syndrome, is characterized by exercise intolerance, dilated cardiomyopathy, neutropenia and 3-methyl ...
Corey ePowers +3 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust +15 more
wiley +1 more source
Barth Syndrome Is Associated with a Cognitive Phenotype [PDF]
Journal of Developmental & Behavioral Pediatrics, 2007 Barth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome suggested a distinct cognitive phenotype.The present study was designed
Michèle M M, Mazzocco +2 more
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Counselling and Psychotherapy Research, Volume 26, Issue 4, December 2026.ABSTRACT Objectives This study is among the first to assess the efficacy of teletherapy‐delivered Transdiagnostic Emotion‐Focused Therapy (EFT‐T) for university students with depression and anxiety symptoms. Methods Therapy was offered in a 12–16 session format. Forty students with depression and anxiety symptoms (diagnosed using the Mini‐International
Petr Mikoška +6 more
wiley +1 more source
BARTH SYNDROME IN PRACTICE OF CARDIOLOGY
Российский кардиологический журнал, 2018 Barth syndrome is an X-bound inherited recessive disorder with the prevalenсe 1:300000 — 1:400000 of live bornt, caused by mutations in the gene TAZ; manifesting with dilation cardiomyopathy, neutropenia, proxymal myopathy, delayed physical and motoric ...
O. V. Melnik +7 more
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Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition
Membranes, 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
Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno +3 more
wiley +1 more source
Psychosocial Functioning in Youth With Barth Syndrome [PDF]
Children'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