Results 1 to 10 of about 1,210,144 (112)
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
Blood, 2004 Barth syndrome (BTHS) is a rare X-linked disease characterized by a triad of dilated cardiomyopathy, skeletal myopathy, and neutropenia. The disease is associated with mutations of the TAZ gene, resulting in defective cardiolipin (CL), an important inner mitochondrial membrane component.
Barbara Plecko +2 more
exaly +6 more sources
Restoration of mitophagy ameliorates cardiomyopathy in Barth syndrome
Autophagy, 2022 Barth syndrome (BTHS) is an X-linked genetic disorder caused by mutations in the TAFAZZIN/Taz gene which encodes a transacylase required for cardiolipin remodeling.
Jia Nie, Yuguang Shi
exaly +2 more sources
American Journal of Medical Genetics, Part A, 2012 Barth syndrome (BTHS); MIM accession # 302060) is a rare X-linked recessive cardioskeletal mitochondrial myopathy with features of cardiomyopathy, neutropenia, and growth abnormalities.
Barry J Byrne
exaly +2 more sources
Some of the next articles are maybe not open access.
PP03.3 – 2376: A non-classical clinical course of Barth syndrome (BTHS)
European Journal of Paediatric Neurology, 2015A non-classical clinical course of Barth Syndrome (BTHS) A six year-old boy, born to non-consanguineous, healthy parents was primarily referred because of growth retardation. Auxological parameters were below the 3rd percentile after having been normal at birth.
M. Fleger +7 more
openaire +1 more source
Favorable outcomes after heart transplantation in Barth syndrome
Journal of Heart and Lung Transplantation, 2021Anne Dipchand +2 more
exaly
Interplay between cardiolipin and plasmalogens in Barth syndrome
Journal of Inherited Metabolic Disease, 2022José Carlos Bozelli, Richard Epand
exaly
Promotion of plasmalogen biosynthesis reverse lipid changes in a Barth Syndrome cell model
Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2020José Carlos Bozelli +2 more
exaly