Results 11 to 20 of about 1,216,936 (163)

Assessing olfactory functions in patients with Barth syndrome. [PDF]

PLoS ONE, 2017
Barth syndrome is a rare X-linked disease affecting less than 200 individuals worldwide. Several comorbidities have been associated with the pathology and, among those, cardiac myopathy and neutropenia are the most life threatening.
Michele Dibattista, Simona Lobasso, Sebastiano Stramaglia, Angela Corcelli   +3 more
doaj   +3 more sources

Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach [PDF]

Journal of Multidisciplinary Healthcare, 2015
Stacey Reynolds Department of Occupational Therapy, Virginia Commonwealth University, Richmond, VA, USA Abstract: This review describes and summarizes the available evidence related to the treatment and management of Barth syndrome.
Reynolds S
doaj   +1 more source

Barth Syndrome Cardiomyopathy: An Update [PDF]

Genes, 2022
Xi Fang, Yutong Bao, Jennifer Veevers
exaly   +2 more sources

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes [PDF]

Disease Models & Mechanisms
Erika Yazawa, Erin M. Keating, Suya Wang, Mason E. Sweat, Qing Ma, Yang Xu, Michael Schlame, William T. Pu   +7 more
doaj   +2 more sources

Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndrome

JIMD Reports, 2022
Cardiomyopathy is the most common presenting feature of Barth syndrome, often presenting in infancy with severe heart failure and cardiac dysfunction. Historically, affected infants commonly died early after presentation, sometimes before a diagnosis of ...
Jessie Yester, Brian Feingold
doaj   +1 more source

Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. [PDF]

PLoS ONE, 2016
Barth Syndrome is the only known Mendelian disorder of cardiolipin remodeling, with characteristic clinical features of cardiomyopathy, skeletal myopathy, and neutropenia.
Yana Sandlers, Kelly Mercier, Wimal Pathmasiri, Jim Carlson, Susan McRitchie, Susan Sumner, Hilary J Vernon   +6 more
doaj   +1 more source

Generation of a homozygous TAZ knockout hESCs line by CRISPR/Cas9 system

Stem Cell Research, 2022
Tafazzin (TAZ), a mitochondrial transacylase located on chromosome X, is required for the production of the mitochondrial phospholipid cardiolipin. Mutations occurring in the TAZ gene will lead to Barth syndrome, an X-linked recessive disease generally ...
Meng Zhou, Pufeng Huang, Rui Bai, Xujie Liu   +3 more
doaj   +1 more source

Deficiency in Cardiolipin Reduces Doxorubicin-Induced Oxidative Stress and Mitochondrial Damage in Human B-Lymphocytes. [PDF]

PLoS ONE, 2016
Cardiolipin (CL) is an inner mitochondrial membrane phospholipid which plays an important role in mitochondrial function. Perturbation in CL biosynthesis alters mitochondrial bioenergetics causing a severe genetic disorder commonly known as Barth ...
Baikuntha Aryal, V Ashutosh Rao
doaj   +1 more source

Late diagnosis of Barth syndrome in a 39‐year‐old patient with non‐compaction cardiomyopathy and neutropenia

ESC Heart Failure, 2020
Barth syndrome is a rare X‐linked recessive disorder characterized by a broad spectrum of clinical features including cardiac and skeletal myopathy, neutropenia, exercise intolerance, and growth delay.
Andreas Seitz, Annely Hinck, Raffi Bekeredjian, Udo Sechtem   +3 more
doaj   +1 more source

Current Knowledge on the Role of Cardiolipin Remodeling in the Context of Lipid Oxidation and Barth Syndrome

Frontiers in Molecular Biosciences, 2022
Barth syndrome (BTHS, OMIM 302060) is a genetic disorder caused by variants of the TAFAZZIN gene (G 4.5, OMIM 300394). This debilitating disorder is characterized by cardio- and skeletal myopathy, exercise intolerance, and neutropenia.
Zhuqing Liang, Michael W. Schmidtke, Miriam L. Greenberg   +2 more
doaj   +1 more source