Results 51 to 60 of about 1,298,581 (123)
Barth syndrome: mechanisms and management
The Application of Clinical Genetics, 2019 Josef FinstererKrankenanstalt Rudolfstiftung, Messerli Institute, Vienna, AustriaObjectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in TAZ encoding for the ...
Finsterer J
doaj
Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidation. [PDF]
PLoS ONE, 2012 Cardiolipin (CL) is a mitochondrial membrane phospholipid which plays a key role in apoptosis and supports mitochondrial respiratory chain complexes involved in the generation of ATP.
William A Taylor +5 more
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Analyses of Social Issues and Public Policy, Volume 26, Issue 2, August 2026.Abstract This mixed‐methods study examines the experience of the impostor phenomenon in a racially/ethnically and sexually diverse sample of undergraduates in majors related to science, technology, engineering, and math (STEM). Guided by an intersectionality framework, we examined whether experiences of the impostor phenomenon differ at the ...
Richard Chang +3 more
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Equine Veterinary Education, Volume 38, Issue 8, Page e509-e515, August 2026.Summary Gastric outflow obstruction (GOO) occasionally requires surgical intervention in foals when medical management fails. Current literature lacks consensus on several surgical decisions, with most comprehensive reports dating back over a decade. Critical aspects—including jejunal loop orientation and necessity of jejunojejunostomy—remain debated ...
P. Fernández Hernández +8 more
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Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome
Molecular Genetics and Metabolism Reports, 2020 Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism.
W. Todd Cade +8 more
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Developmental Neurobiology, Volume 86, Issue 3, July 2026.ABSTRACT Zika virus (ZIKV) is an Orthoflavivirus known for its teratogenicity and for causing congenital Zika syndrome (CZS) in the offspring, but recent studies suggest a negative impact on maternal brain health and behavior following gestational ZIKV inoculation.
Meirylanne Gomes‐da‐Costa +10 more
wiley +1 more source
Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis.
PLoS ONE, 2015 Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation.
Laurence C Cadalbert +6 more
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Stem Cell Research, 2020 Human urine cells from a 6-year-old male X-linked Barth syndrome patient harboring a TAZ frameshift (c.517delG, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi002-A using non-integration CytoTune®-iPS 2.0 Sendai Virus ...
Xiaoling Guo +7 more
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European Eating Disorders Review, Volume 34, Issue 4, Page 1089-1098, July 2026.ABSTRACT Objective Gaining access to evidence‐informed treatment for eating disorders (EDs) is challenging, and this creates interest in the possible benefits of self‐help treatment methods. We investigated the effectiveness of receiving evidence‐informed self‐guided psychoeducation, delivered to individuals while on a waitlist for specialised ED care.
Linda Booij +5 more
wiley +1 more source
Vorlageform des Erscheinungsvermerks: Leipzig, 1797, bey Johann Ambrosius Barth.4 Ill. und graph. Darst. (Kupferst.
Vieth, Gerhard Ulrich Anton
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