Skip to main content

3 Result(s)

within M. P. Sperandeo Remove this filter Internal Medicine Remove this filter

and

  1. No Access

    Article

    Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations

    Fasting and post-methionine load plasma total homocysteine concentrations were investigated in the parents of two homocystinuric patients. Three genetic mutations in the cystathionineβ-synthase gene were found. I...

    M. P. Sperandeo, M. Candito, G. Sebastio… in Journal of Inherited Metabolic Disease (1996)

  2. No Access

    Article

    Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

    M. P. Sperandeo, M. Panico, A. Pepe, M. Candito… in Journal of Inherited Metabolic Disease (1995)

  3. No Access

    Article

    Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine

    K. Björkegren, C. Bergmark, U. de Faire… in Irish Journal of Medical Science (1995)