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• W3190293731 abstract "Abstract First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin ( TAZ ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood." @default.
• W3190293731 created "2021-08-16" @default.
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• W3190293731 date "2013-02-12" @default.
• W3190293731 modified "2023-10-17" @default.
• W3190293731 title "Barth syndrome" @default.
• W3190293731 cites W1534284551 @default.
• W3190293731 cites W1559161193 @default.
• W3190293731 cites W1786885738 @default.
• W3190293731 cites W1968134726 @default.
• W3190293731 cites W1968871152 @default.
• W3190293731 cites W1974045282 @default.
• W3190293731 cites W1974145389 @default.
• W3190293731 cites W1975703358 @default.
• W3190293731 cites W1980690522 @default.
• W3190293731 cites W1981761696 @default.
• W3190293731 cites W1983663511 @default.
• W3190293731 cites W1983927010 @default.
• W3190293731 cites W1985217644 @default.
• W3190293731 cites W1990153284 @default.
• W3190293731 cites W1993103335 @default.
• W3190293731 cites W2004693594 @default.
• W3190293731 cites W2005006722 @default.
• W3190293731 cites W2006161687 @default.
• W3190293731 cites W2009596928 @default.
• W3190293731 cites W2011917817 @default.
• W3190293731 cites W2016432558 @default.
• W3190293731 cites W2016624615 @default.
• W3190293731 cites W2018216394 @default.
• W3190293731 cites W2018693308 @default.
• W3190293731 cites W2020280120 @default.
• W3190293731 cites W2022221016 @default.
• W3190293731 cites W2023253718 @default.
• W3190293731 cites W2024335891 @default.
• W3190293731 cites W2025155867 @default.
• W3190293731 cites W2025702700 @default.
• W3190293731 cites W2031671709 @default.
• W3190293731 cites W2033072021 @default.
• W3190293731 cites W2033130282 @default.
• W3190293731 cites W2039811101 @default.
• W3190293731 cites W2041982853 @default.
• W3190293731 cites W2043100242 @default.
• W3190293731 cites W2043985983 @default.
• W3190293731 cites W2051342341 @default.
• W3190293731 cites W2052110175 @default.
• W3190293731 cites W2053486073 @default.
• W3190293731 cites W2055530953 @default.
• W3190293731 cites W2056998672 @default.
• W3190293731 cites W2064747174 @default.
• W3190293731 cites W2065086243 @default.
• W3190293731 cites W2074179637 @default.
• W3190293731 cites W2078416451 @default.
• W3190293731 cites W2079307234 @default.
• W3190293731 cites W2079465344 @default.
• W3190293731 cites W2081996533 @default.
• W3190293731 cites W2082261245 @default.
• W3190293731 cites W2082553532 @default.
• W3190293731 cites W2087277753 @default.
• W3190293731 cites W2093769286 @default.
• W3190293731 cites W2099103099 @default.
• W3190293731 cites W2099666947 @default.
• W3190293731 cites W2100420539 @default.
• W3190293731 cites W2101641299 @default.
• W3190293731 cites W2104955231 @default.
• W3190293731 cites W2105930355 @default.
• W3190293731 cites W2112669041 @default.
• W3190293731 cites W2117704164 @default.
• W3190293731 cites W2118380454 @default.
• W3190293731 cites W2123970417 @default.
• W3190293731 cites W2126297347 @default.
• W3190293731 cites W2132145238 @default.
• W3190293731 cites W2135394011 @default.
• W3190293731 cites W2137100643 @default.
• W3190293731 cites W2144207859 @default.
• W3190293731 cites W2145750442 @default.
• W3190293731 cites W2145863585 @default.
• W3190293731 cites W2146683088 @default.
• W3190293731 cites W2150856099 @default.
• W3190293731 cites W2156638362 @default.
• W3190293731 cites W2157431350 @default.
• W3190293731 cites W2158590609 @default.
• W3190293731 cites W2166742653 @default.
• W3190293731 cites W2168359508 @default.
• W3190293731 cites W2169956102 @default.

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