The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module. [PDF]
Occup Ther Int, 2023 Lim Y, Hong I, Han A.
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Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome. [PDF]
Orphanet J Rare Dis, 2022 Hornby B +6 more
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Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts. [PDF]
Biology (Basel), 2023 Zegallai HM, Duan K, Hatch GM.
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Hypogammaglobulinaemia and B cell lymphopaenia in Barth syndrome. [PDF]
BMJ Case Rep, 2022 Kudlaty E, Agnihotri N, Khojah A.
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Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome. [PDF]
Stem Cell Rev RepSierra Potchanant EA +12 more
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Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue. [PDF]
EMBO Mol MedSchomakers BV +18 more
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Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome. [PDF]
Int J Mol SciRaghav R +5 more
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Heart injury in Barth syndrome
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2016 I. V. Leontyeva +2 more
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Experimental models of Barth syndrome. [PDF]
J Inherit Metab Dis, 2022 AbstractMutation of the gene Tafazzin (TAZ) causes Barth syndrome, an X‐linked disorder characterized by cardiomyopathy, skeletal muscle weakness, and neutropenia. TAZ is an acyltransferase that catalyzes the remodeling of cardiolipin, the signature phospholipid of the inner mitochondrial membrane. Here, we review the major model systems that have been
Pu WT.
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