Results 81 to 90 of about 41,331 (231)
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Mitochondrial trifunctional protein (TFP) deficiency is an inherited disorder of long‐chain fatty acid β‐oxidation (FAO). TFP is a heteromeric enzyme composed of two α and two β‐subunits. Despite early detection and dietary treatment, TFP deficiency patients often develop hypoglycemia, rhabdomyolysis, cardiomyopathy, and peripheral neuropathy.
Eduardo Vieira Neto +8 more
wiley +1 more source
A Qualitative Investigation of Fatigue & Its Daily Impacts as Perceived by Individuals With Barth Syndrome & Their Families [PDF]
, 2023 Stacey Reynolds +2 more
openalex +1 more source
Psychosocial Functioning in Youth With Barth Syndrome [PDF]
Children's Health Care, 2009 This pilot study assessed the quality of life and psychosocial functioning of pediatric patients with Barth Syndrome. Thirty-four boys with Barth Syndrome and 22 healthy male controls were administered a measure of verbal ability and completed measures of quality of life, loneliness, perceived peer support, and sibling relationship quality.
Eric A, Storch +7 more
openaire +2 more sources
Inhibitory effect of oestradiol on the cardiac KV7.1/KCNE1 channel is species dependent
Experimental Physiology, Volume 111, Issue 1, Page 54-68, 1 January 2026.Abstract Oestradiol (17β‐E2) is reported to prolong the cardiac action potential duration and QT interval, in part by affecting cardiac ion channels. Previous studies found inhibiting 17β‐E2 effects on the repolarizating cardiac KV7.1/KCNE1 channel, or its native current, in heterologous expression systems or tissue from animal species.
Veronika A. Linhart +2 more
wiley +1 more source
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
doaj +1 more source
The contribution of age and sex hormones to female neuromuscular function across the adult lifespan
The Journal of Physiology, Volume 604, Issue 2, Page 829-848, 15 January 2026.Abstract figure legend This study mapped the age‐related trajectory of neuromuscular deterioration in 88 healthy females aged 18–80 years old. An accelerated reduction in neuromuscular function, primarily of peripheral muscular origin, coincided with the age of menopause onset.
Steven J. O'Bryan +4 more
wiley +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Jakob Veeser +11 more
wiley +1 more source
Journal of Lipid Research, 2010 Cardiolipin is a class of mitochondrial specific phospholipid, which is intricately involved in mitochondrial functionality. Differences in cardiolipin species exist in a variety of tissues and diseases.
Michael A. Kiebish +9 more
doaj +1 more source
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
doaj +1 more source
Food Science &Nutrition, Volume 13, Issue 12, December 2025.Quinoa alleviates liver injury, glucose/lipid metabolic disorders, and insulin resistance in high‐fat diet‐induced NAFLD mice. Mechanistically, it acts by inhibiting the Ras‐PLD signaling pathway, activating autophagy, and regulating key related protein/gene expressions, as validated via network pharmacology, transcriptomics, and in vivo experiments ...
Yuelin Zhang +6 more
wiley +1 more source