نتایج جستجو برای: coa dehydrogenase deficiency

تعداد نتایج: 214964  

Journal: :Canadian Journal of Neurological Sciences 2021

A 31-year-old female hairdresser whose parents were first degree cousins complained of episodic attacks headache, vomiting, and dizziness for the past eight years after an uneventful childhood adolescence. Four ago, she developed progressive weakness, muscle pain difficulties walking lifting her arms that could not work in profession anymore. She lost hair, weight became amenorrhoic. Finally, w...

2009
Marcello Marcì Patrizia Ajovalasit

We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of inherited disorders of mitochondrial fatty-acid beta-oxidation. Long-chain and very long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficits are recognized as responsible of hypertrophic or, less fre...

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