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A Comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene

2022-12-16

Abstract excerpt

<title>Abstract</title> <p>Lipid storage myopathy (LSM) is a heterogeneous group of lipid metabolism disorders predominantly affecting skeletal muscle by triglyceride accumulation in muscle fibers. Riboflavin therapy has been shown to ameliorate symptoms in some LSM patients who are essentially concerned with multiple acyl-CoA dehydrogenation deficiency (MADD). It is proved that riboflavin responsive LSM caused b...

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Literature Corpus work
67a0607d-705c-525e-993f-678bdce6c476
DOI
10.21203/rs.3.rs-2314639/v1
Open publication

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A Comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH geneDOI 10.21203/rs.3.rs-2314639/v1
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