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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

    Article

    Diagnostic pitfalls in the assessment of congenital hypopituitarism

    The diagnosis of congenital hypopituitarism is difficult and often delayed because its symptoms are nonspecific.

    Paolo Cavarzere, Paolo Biban, Rossella Gaudino… in Journal of Endocrinological Investigation (2014)

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    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)