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  1. No Access

    Article

    Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin

    Pyruvate carboxylase (PC) deficiency (OMIM 266150) is an autosomal recessive disorder that usually presents with lactic acidaemia and severe neurological dysfunction, leading to death in infancy. Because the e...

    C. Breen, F. J. White, C. A. B. Scott, L. Heptinstall… in European Journal of Pediatrics (2014)

  2. No Access

    Article

    Strategies for the treatment of cystathionine β-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years

    Strategies for the treatment of cystathionine β-synthase (CBS) deficiency include (1) increasing residual enzyme activity by giving pyridoxine in those patients with vitamin responsive variants, (2) reducing ...

    J. H. Walter, J. E. Wraith, F. J. White, C. Bridge… in European Journal of Pediatrics (1998)