The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency

The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency

ABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas...

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Main Authors: Carmen R Vargas (Author), Marion Deon (Author), Angela Sitta (Author), Daniella M Coelho (Author), Patricia D Silva (Author), Larissa Murussi (Author), Laura V Fleith (Author), Carolina Crespo (Author), Moacir Wajner (Author), Maria Teresa V Sanseverino (Author)
Format: Book
Published: Sociedade Brasileira de Patologia Clínica, 2020-05-01T00:00:00Z.
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