Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study
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DOI: 10.1097/ms9.0000000000000561
Abstract: Introduction and importance: Lipid storage myopathy due to flavin adenine dinucleotide synthetase 1 (FLAD1) deficiency is an autosomal recessive error of metabolism that causes variable mitochondrial dysfunction. Case presentation: At the age of 3, the… read more here.
Keywords: lipid storage; flad1; storage myopathy; detection ... See more keywords
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal
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DOI: 10.1111/jvim.15218
Abstract: A 12‐hours‐old Paint filly was examined because of weakness and dull mentation after birth. Despite IV administered dextrose, the foal remained persistently hypoglycemic with increase in serum activity of muscle and liver enzymes. A postmortem… read more here.
Keywords: storage; paint; foal; hypoglycemia ... See more keywords
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.
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DOI: 10.55730/1300-0144.5431
Abstract: BACKGROUND The lipid storage myopathy (LSM) diagnosis is based on the patient's clinical manifestations and muscle pathology. However, when genetic testing is lacking, there is a high rate of misdiagnosis of the disease. This study… read more here.
Keywords: lipid storage; northern china; clinical pathological; storage myopathy ... See more keywords