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  1. No Access

    Article

    Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency

    We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X, p.Glu 451X), one splicing defect (c.2125−1G >A), one small ...

    C. Cavicchi, M. A. Donati, E. Pasquini… in Journal of Inherited Metabolic Disease (2005)

  2. No Access

    Article

    Hyperammonaemia in a child with distal renal tubular acidosis

    A 5-month-old girl with distal renal tubular acidosis (RTA) and hyperammonaemia that had lasted for 12 days, despite metabolic acidosis correction, is presented in this report. The patient showed failure to th...

    D. Seracini, G. M. Poggi, I. Pela in Pediatric Nephrology (2005)

  3. No Access

    Article

    Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

    G. M. Poggi, E. Lamantea, F. Ciani, M. A. Donati… in Journal of Inherited Metabolic Disease (2000)