Results 11 to 20 of about 7,513 (190)
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 +3 more
doaj +3 more sources
Mechano‐energetic aspects of Barth syndrome [PDF]
Journal of Inherited Metabolic Disease, 2021 AbstractEnergy‐demanding organs like the heart are strongly dependent on oxidative phosphorylation in mitochondria. Oxidative phosphorylation is governed by the respiratory chain located in the inner mitochondrial membrane. The inner mitochondrial membrane is the only cellular membrane with significant amounts of the phospholipid cardiolipin, and ...
Dudek, Jan, Maack, Christoph
openaire +4 more sources
Barth syndrome cardiomyopathy [PDF]
Cardiovascular Research, 2017 Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes.
Jan, Dudek, Christoph, Maack
openaire +3 more sources
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 +6 more
doaj +3 more sources
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 +3 more
doaj +2 more sources
Barth syndrome in an adult patient: an overview of the problem and case report. A review [PDF]
Терапевтический архивBarth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications.
Marina D. Muksinova +8 more
doaj +2 more sources
A rare clinical association: Barth syndrome and cystic fibrosis
The Turkish Journal of Pediatrics, 2019 Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, growth retardation and 3-methylglutaconic aciduria type II.
Elif Sağ +3 more
doaj +3 more sources
Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome [PDF]
EMBO Molecular Medicine, 2023 Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS) is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase tafazzin.
Arpita Chowdhury +2 more
exaly +3 more sources
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
doaj +3 more sources
Cells, 2020 Tafazzin is a phospholipid transacylase that catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation.
Patrice X. Petit +3 more
doaj +2 more sources