Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency

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Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency

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Lipid Storage Myopathy with Ke ...... l-CoA Dehydrogenase Deficiency

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Lipid Storage Myopathy with Ke ...... l-CoA Dehydrogenase Deficiency

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Lipid Storage Myopathy with Ke ...... l-CoA Dehydrogenase Deficiency

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Lipid Storage Myopathy with Ke ...... l-CoA Dehydrogenase Deficiency

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Lipid Storage Myopathy with Ke ...... l-CoA Dehydrogenase Deficiency

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Lipid Storage Myopathy with Ke ...... l-CoA Dehydrogenase Deficiency

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P1476

Lipid Storage Myopathy with Ke ...... l-CoA Dehydrogenase Deficiency

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P2093

Akshata Huddar

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Gayathri Narayanappa

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Nitin C Ramanujam

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Pavan Katragadda

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Rita Christopher

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Sadanandavalli R Chandra

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Shreyashi Jha

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P2860

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

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Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.

Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency.

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.

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362-365

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scholarly article

case report

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10.4103/JPN.JPN_21_18

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English

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P478

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P698

30271477

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P921

multiple acyl-CoA dehydrogenase deficiency

P932

6144612

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