Search Results - "Barth Syndrome"

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

Authors: Marjoram L Huang Y Koenig MK et al.

Source: Journal of medical economics [J Med Econ] 2025 Dec; Vol. 28 (1), pp. 2010-2026. Date of Electronic Publication: 2025 Nov 21.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9892255 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1941-837X (Electronic) Linking ISSN: 13696998 NLM ISO Abbreviation: J Med Econ Subsets: MEDLINE

MeSH Terms: Cost of Illness* , Barth Syndrome*/economics , Barth Syndrome*/therapy , Barth Syndrome*/complications , Health Resources*/statistics & numerical data , Health Resources*/economics , Health Services*/statistics & numerical data , Health Services*/economics, Humans ; United States ; Male ; Insurance Claim Review/statistics & numerical data ; Female ; Child ; Adult ; Health Expenditures/statistics & numerical data ; Adolescent ; Hospitalization/economics ; Young Adult

The B-lymphoblastoid model in Barth syndrome.

Authors: Chan JZ Tomczewski MV Berdeklis AN et al.

Source: Biochimica et biophysica acta. Molecular and cell biology of lipids [Biochim Biophys Acta Mol Cell Biol Lipids] 2025 Dec; Vol. 1870 (8), pp. 159691. Date of Electronic Publication: 2025 Sep 23.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731727 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-2618 (Electronic) Linking ISSN: 13881981 NLM ISO Abbreviation: Biochim Biophys Acta Mol Cell Biol Lipids Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/genetics , Barth Syndrome*/pathology , Barth Syndrome*/metabolism , B-Lymphocytes*/metabolism , B-Lymphocytes*/pathology , Transcription Factors*/genetics , Transcription Factors*/metabolism, Humans ; Acyltransferases ; Mitochondria/metabolism ; Mitochondria/genetics ; Cardiolipins/metabolism ; Animals ; Mutation

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue.

Authors: Schomakers BV Passadouro AS Trętowicz MM et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2025 Nov; Vol. 17 (11), pp. 3227-3246. Date of Electronic Publication: 2025 Oct 13.

Publication Type: Journal Article

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/pathology , Barth Syndrome*/metabolism , Myocardium*/pathology , Myocardium*/metabolism , Mitochondria*/metabolism , Mitochondria*/pathology, Humans ; Male ; Child ; Child, Preschool ; Adolescent ; Adult ; Cardiolipins/metabolism ; Proteomics/methods ; Middle Aged ; Metabolomics/methods ; Infant ; Young Adult ; Aged ; Biomarkers ; Lipidomics ; Multiomics ; Acyltransferases ; Lysophospholipids

Cardiac pathology in a patient with a novel pathogenic variant c.703del (p.Ile235SerfsTer4) of the TAFAZZIN gene.

Authors: Prasanpanich M Husain M Halnon NJ et al.

Source: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology [Cardiovasc Pathol] 2025 Nov-Dec; Vol. 79, pp. 107749. Date of Electronic Publication: 2025 Jul 10.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Science Pub. Co Country of Publication: United States NLM ID: 9212060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1336 (Electronic) Linking ISSN: 10548807 NLM ISO Abbreviation: Cardiovasc Pathol Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/genetics , Barth Syndrome*/pathology , Barth Syndrome*/therapy , Acyltransferases*/genetics , Transcription Factors*/genetics , Mitochondria, Heart*/ultrastructure , Mitochondria, Heart*/drug effects , Mitochondria, Heart*/pathology , Mutation*, Humans ; Male ; Heart Transplantation ; Phenotype ; Genetic Predisposition to Disease ; Infant, Newborn ; Treatment Outcome ; Cardiomyopathy, Dilated/genetics ; Cardiomyopathy, Dilated/pathology

Granulopoietic Dysregulation in a Patient-Tailored Mouse Model of Barth Syndrome.

Authors: Sierra Potchanant EA Capitano ML Edwards DM et al.

Source: Stem cell reviews and reports [Stem Cell Rev Rep] 2025 Oct; Vol. 21 (7), pp. 2170-2187. Date of Electronic Publication: 2025 Aug 05.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101752767 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2629-3277 (Electronic) Linking ISSN: 26293277 NLM ISO Abbreviation: Stem Cell Rev Rep Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/genetics , Barth Syndrome*/pathology , Barth Syndrome*/metabolism , Transcription Factors*/genetics , Transcription Factors*/metabolism, Animals ; Disease Models, Animal ; Mice ; Humans ; Acyltransferases/genetics ; Acyltransferases/metabolism ; Neutropenia/pathology ; Neutropenia/genetics ; Mitochondria/metabolism ; Neutrophils/metabolism ; Neutrophils/pathology ; Male

Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case Report.

Authors: Jacob N Schecter D Marshall M et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Sep-Oct; Vol. 146 (1-2), pp. 109220. Date of Electronic Publication: 2025 Aug 11.

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/drug therapy , Barth Syndrome*/genetics , Barth Syndrome*/pathology , Oligopeptides*/therapeutic use , Oligopeptides*/administration & dosage, Humans ; Male ; Cardiolipins/metabolism ; Female ; Transcription Factors/genetics ; Acyltransferases/genetics ; Infant, Newborn

A review of disorders of cardiolipin metabolism: Pathophysiology, clinical presentation and future directions.

Authors: Carney OS Harris K Santizo M et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Aug; Vol. 145 (4), pp. 109184. Date of Electronic Publication: 2025 Jun 28.

Publication Type: Journal Article; Review

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH Terms: Cardiolipins*/metabolism , Cardiolipins*/genetics , Barth Syndrome*/genetics , Barth Syndrome*/metabolism , Barth Syndrome*/physiopathology , Barth Syndrome*/pathology , Mitochondrial Diseases*/genetics , Mitochondrial Diseases*/metabolism , Mitochondrial Diseases*/physiopathology , Mitochondrial Diseases*/pathology, Humans ; Mitochondria/metabolism ; Mitochondria/genetics ; Mitochondria/pathology ; Animals

Genetic suppression features ABHD18 as a Barth syndrome therapeutic target.

Authors: Masud SN Srivastava A Mero P et al.

Source: Nature [Nature] 2025 Sep; Vol. 645 (8082), pp. 1029-1038. Date of Electronic Publication: 2025 Sep 03.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/genetics , Barth Syndrome*/drug therapy , Barth Syndrome*/enzymology , Barth Syndrome*/pathology , Barth Syndrome*/metabolism , Cardiolipins*/biosynthesis , Cardiolipins*/metabolism , Molecular Targeted Therapy* , Monoacylglycerol Lipases*/antagonists & inhibitors , Monoacylglycerol Lipases*/metabolism , Monoacylglycerol Lipases*/genetics, Humans ; Animals ; Mice ; Mitochondria/metabolism ; Mitochondria/pathology ; Mitochondria/drug effects ; Zebrafish/genetics ; Zebrafish/embryology ; Lysophospholipids/biosynthesis ; Lysophospholipids/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Transcription Factors/deficiency ; Fibroblasts/metabolism ; Fibroblasts/drug effects ; Female ; Male ; Mutation ; Disease Models, Animal ; Phenotype ; Acyltransferases

Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study.

Authors: Gwaltney C Shields A Love E et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Apr 25; Vol. 20 (1), pp. 199. Date of Electronic Publication: 2025 Apr 25.

Publication Type: Journal Article; Clinical Trial, Phase II; Randomized Controlled Trial

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/drug therapy , Barth Syndrome*/diagnosis , Psychometrics*/methods , Symptom Assessment*/methods, Humans ; Male ; Adolescent ; Adult ; Young Adult ; Double-Blind Method ; Female ; Cross-Over Studies ; Oligopeptides/therapeutic use

Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model.

Authors: Tongu Y Kasahara T Matsuhashi T et al.

Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2025 Jun 30; Vol. 39 (12), pp. e70739.

Publication Type: Journal Article

Journal Info: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/drug therapy , Barth Syndrome*/metabolism , Barth Syndrome*/pathology , Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/drug effects , Mitochondria*/drug effects , Mitochondria*/metabolism , Muscular Diseases*/drug therapy , Muscular Diseases*/metabolism, Animals ; Humans ; Drosophila melanogaster ; Disease Models, Animal ; Myoblasts/metabolism ; Myoblasts/drug effects ; Fibroblasts/metabolism ; Fibroblasts/drug effects ; Oxidative Stress/drug effects ; Endoplasmic Reticulum Stress/drug effects

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes.

Authors: Yazawa E Keating EM Wang S et al.

Source: Disease models & mechanisms [Dis Model Mech] 2025 May 01; Vol. 18 (5). Date of Electronic Publication: 2025 May 19.

Publication Type: Journal Article

Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/physiopathology , Barth Syndrome*/pathology , Muscle, Skeletal*/pathology , Muscle, Skeletal*/physiopathology , Muscle, Skeletal*/ultrastructure , Myocardium*/pathology , Myocardium*/ultrastructure , Myocardium*/metabolism , Heart*/physiopathology, Animals ; Disease Models, Animal ; Phenotype ; Humans ; Mice, Knockout ; Cardiolipins/metabolism ; Acyltransferases ; Transcription Factors/metabolism ; Mice ; Mitochondria/metabolism ; Mitochondria/ultrastructure ; Oxygen Consumption

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

Authors: Sergi CM; AP Division, Pathology Laboratories, Children's Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Rd., Ottawa, ON K1H 8L1, Canada.; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB T6G 2R3, Canada.

Source: Genes [Genes (Basel)] 2025 Apr 18; Vol. 16 (4). Date of Electronic Publication: 2025 Apr 18.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/genetics , Barth Syndrome*/pathology , Acyltransferases*/genetics , TATA-Binding Protein Associated Factors*/genetics , Mitochondria*/genetics , Mitochondria*/metabolism , Mitochondria*/pathology, Humans ; Male ; Female ; Mutation

Rescue of mitochondrial dysfunction through alteration of extracellular matrix composition in barth syndrome cardiac fibroblasts.

Authors: Piñeiro-Llanes J Suzuki-Hatano S Jain A et al.

Source: Biomaterials [Biomaterials] 2025 Apr; Vol. 315, pp. 122922. Date of Electronic Publication: 2024 Oct 26.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 8100316 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5905 (Electronic) Linking ISSN: 01429612 NLM ISO Abbreviation: Biomaterials Subsets: MEDLINE

MeSH Terms: Extracellular Matrix*/metabolism , Fibroblasts*/metabolism , Barth Syndrome*/metabolism , Barth Syndrome*/pathology, Humans ; Mitochondria/metabolism ; Myocardium/metabolism ; Myocardium/pathology ; Cells, Cultured ; Male ; Female

Reproductive decision-making for Barth syndrome carriers: Unexplored complexities.

Authors: Castro J James CA Owczarzak J et al.

Source: Journal of genetic counseling [J Genet Couns] 2025 Jun; Vol. 34 (3), pp. e70035.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

MeSH Terms: Decision Making* , Barth Syndrome*/genetics , Barth Syndrome*/psychology, Humans ; Female ; Male ; Adult ; Heterozygote ; Genetic Counseling

Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndrome.

Authors: Kim YS Yoo S Jung YJ et al.

Source: Experimental & molecular medicine [Exp Mol Med] 2025 Jun; Vol. 57 (6), pp. 1260-1271. Date of Electronic Publication: 2025 Jun 24.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9607880 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-6413 (Electronic) Linking ISSN: 12263613 NLM ISO Abbreviation: Exp Mol Med Subsets: MEDLINE

MeSH Terms: Induced Pluripotent Stem Cells*/cytology , Induced Pluripotent Stem Cells*/metabolism , Barth Syndrome*/therapy , Barth Syndrome*/metabolism , Barth Syndrome*/pathology , Barth Syndrome*/physiopathology , Myocytes, Cardiac*/metabolism , Myocytes, Cardiac*/cytology , Myocytes, Cardiac*/transplantation , Cell Differentiation* , Mitochondria*/transplantation , Mitochondria*/metabolism, Humans ; Male ; Mitophagy ; Transplantation, Homologous ; Cells, Cultured

Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model.

Authors: Lim Y Hong I Han A

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 12; Vol. 20 (1), pp. 120. Date of Electronic Publication: 2025 Mar 12.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

MeSH Terms: Quality of Life* , Barth Syndrome*/physiopathology , Barth Syndrome*/psychology , Parents*/psychology, Humans ; Male ; Female ; Child ; Child, Preschool ; Surveys and Questionnaires ; Adult

Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome.

Authors: Sniezek Carney O Harris KW Wohlfarter Y et al.

Source: Human molecular genetics [Hum Mol Genet] 2025 Jan 23; Vol. 34 (1), pp. 101-115.

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/genetics , Barth Syndrome*/pathology , Barth Syndrome*/metabolism , Transcription Factors*/genetics , Transcription Factors*/deficiency , Transcription Factors*/metabolism, Humans ; Induced Pluripotent Stem Cells/metabolism ; Induced Pluripotent Stem Cells/pathology ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/pathology ; Acyltransferases ; Neural Stem Cells/metabolism ; Neural Stem Cells/pathology ; Mitochondria/metabolism ; Mitochondria/genetics ; Mitochondria/pathology ; Mitophagy/genetics ; Cardiolipins/metabolism ; Animals ; Mice

[Analysis of 21 cases of Barth syndrome in children].

Authors: Xiao YY Yu W Ding WW et al.

Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2025 Mar 02; Vol. 63 (3), pp. 278-282.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/genetics , Barth Syndrome*/diagnosis , Barth Syndrome*/therapy , Barth Syndrome*/drug therapy , Transcription Factors*/genetics, Humans ; Male ; Retrospective Studies ; Infant ; Child, Preschool ; Echocardiography ; Electrocardiography ; Female ; Child ; Mutation ; Acyltransferases ; Age of Onset ; Genetic Testing

Tafazzin regulates neutrophil maturation and inflammatory response.

Authors: Zakrzewski P Rice CM Fleming K et al.

Source: EMBO reports [EMBO Rep] 2025 Mar; Vol. 26 (6), pp. 1590-1619. Date of Electronic Publication: 2025 Feb 17.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE

MeSH Terms: Neutrophils*/metabolism , Neutrophils*/pathology , Neutrophils*/immunology , Inflammation*/metabolism , Inflammation*/pathology , Inflammation*/genetics , Barth Syndrome*/genetics , Barth Syndrome*/pathology , Barth Syndrome*/metabolism , Barth Syndrome*/immunology , TATA-Binding Protein Associated Factors*/genetics , TATA-Binding Protein Associated Factors*/metabolism , Acyltransferases*/genetics , Acyltransferases*/metabolism, Humans ; Cell Differentiation ; Neutropenia/genetics ; Extracellular Traps/metabolism ; Unfolded Protein Response ; Hematopoietic Stem Cells/metabolism ; CRISPR-Cas Systems

Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome.

Authors: Raghav R Awata J Martin GL et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 18; Vol. 25 (24). Date of Electronic Publication: 2024 Dec 18.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

MeSH Terms: Barth Syndrome*/genetics , Barth Syndrome*/therapy , Barth Syndrome*/drug therapy , Cell-Penetrating Peptides*/pharmacology , Acyltransferases*/genetics , Disease Models, Animal* , Genetic Therapy*/methods, Animals ; Mice ; Cardiomegaly/genetics ; Cardiomegaly/drug therapy ; Cardiomegaly/therapy