Ophthalmologe 2020 Jan 29
[Unilateral retinal hemorrhage in infants-two cases of shaken baby syndrome?]
Barth T, Altmann M, Batzlsperger C, Jägle H, Helbig H
A 2.5-month-old boy and a 2-month-old girl were admitted to a pediatric intensive care unit with impaired consciousness. Both infants had subdural hem ...
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Source: PubMed
ESC Heart Fail 2020 Jan 22
Late diagnosis of Barth syndrome in a 39-year-old patient with non-compaction cardiomyopathy and neutropenia.
Seitz A, Hinck A, Bekeredjian R, Sechtem U
Barth syndrome is a rare X-linked recessive disorder characterized by a broad spectrum of clinical features including cardiac and skeletal myopathy, n ...
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Source: PubMed
Metabolites
Barth Syndrome: Exploring Cardiac Metabolism with Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Fatica EM, DeLeonibus GA, House A, Kodger JV, Pearce RW, Shah RR, Levi L, Sandlers Y
Barth syndrome (BTHS) is an X-linked recessive multisystem disorder caused by mutations in the TAZ gene (TAZ, G 4.5, OMIM 300394) that encodes for the ...
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Source: PubMed
Front Cardiovasc Med
SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy.
Machiraju P, Wang X, Sabouny R, Huang J, Zhao T, Iqbal F, King M, Prasher D, Lodha A, Jimenez-Tellez N, Ravandi A, Argiropoulos B, Sinasac D, Khan A, Shutt TE, Greenway SC
We used patient dermal fibroblasts to characterize the mitochondrial abnormalities associated with the dilated cardiomyopathy with ataxia syndrome (DC ...
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Source: PubMed
