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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

The Loss of Tafazzin Transacetylase Activity Is Sufficient to Drive Testicular Infertility

Journal of Developmental Biology
Barth syndrome (BTHS) is a rare, infantile-onset, X-linked mitochondriopathy exhibiting a variable presentation of failure to thrive, growth insufficiency, skeletal myopathy, neutropenia, and heart anomalies due to mitochondrial dysfunction secondary to ...
Paige L. Snider, Elizabeth A. Sierra Potchanant, Catalina Matias, Donna M. Edwards, Jeffrey J. Brault, Simon J. Conway   +5 more
doaj   +1 more source

Omega-3 fatty acid supplementation improves skeletal muscle mitochondrial function in a model of Barth syndrome

JCI Insight
The composition of mitochondrial membrane lipids is crucial to cellular respiration, as seen in Barth syndrome (BTHS), a rare disease affecting skeletal muscle, heart, and neutrophils.
Katharina B. Kuentzel, Ana Vranešević, Samuel A.J. Trammell, Fabian Finger, Jesper F. Havelund, Yvette L. Schooneveldt, Ivan Bradić, Nicoline R. Andersen, Anna S. Hassing, Katja T. Michler, Martin R. Larsen, Zachary Gerhart-Hines, Steven M. Claypool, Jonas T. Treebak, Andreas M. Fritzen, Matthew P. Gillum, Steen Larsen, Nils Færgeman, Trisha J. Grevengoed   +18 more
doaj   +1 more source

Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients

, 2002
BACKGROUND: The concentration of cardiolipin (CL) in cultured skin fibroblasts is a useful indicator of Barth syndrome (BTHS; MIM 302060), but the sampling and culturing of fibroblasts are burdensome and time-consuming procedures. We investigated whether
Valianpour, Fredoen, Wanders, Ronald J. A., Overmars, Henk, Barth, Peter G., van Gennip, Albert H.   +4 more
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Mitochondrial dysfunctions in barth syndrome

IUBMB Life, 2019
Writoban Basu Ball, Vishal Gohil, Sagnika Ghosh   +2 more
exaly  

X Chromosome Inactivation in Carriers of Barth Syndrome

American Journal of Human Genetics, 1998
Anna K Naumova, Daniela Toniolo, Patrizia D'Adamo   +2 more
exaly  

Cardiolipin deficiency in x-linked cardioskeletal myopathy and neutropenia (barth syndrome, mim 302060): a study in cultured skin fibroblasts

Journal of Pediatrics, 2002
Ronald Wanders, Barbara Plecko, Frank Baas   +2 more
exaly  

Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome

Physiological Reports, 2017
Linda Peterson, W Todd Cade, Lisa de Las Fuentes   +2 more
exaly  

Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies—A Comprehensive Narrative Review

Genes
Consolato Sergi
exaly  

Real-world disease burden and health care resource utilization for patients with Barth syndrome

Journal of Medical Economics
Mary Kay Koenig, Lindsay Marjoram, Bruce Cohen   +2 more
exaly