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  1. Article

    Open Access

    Fever in the first month of life

    Paolo Biban, Simona Spada, Davide Silvagni, Silvia Perlini… in Italian Journal of Pediatrics (2015)

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  2. No Access

    Chapter

    3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Identification of a New Mutation Causing Hyperinsulinemic Hypoketotic Hypoglycemia, Altered Organic Acids and Acylcarnitines Concentrations

    The human HADH gene encodes the short-chain-L-3-hydroxyacyl-CoA dehydrogenase, the enzyme which catalyzes the third step of the β-oxidation of the fatty acids in the mitochondrial matrix. Loss-of-function mutatio...

    Florina Ion Popa, Silvia Perlini… in JIMD Reports - Case and Research Reports, … (2012)