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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

    Randomised controlled trial of essential fatty acid supplementation in phenylketonuria

    The long-chain polyunsaturated fatty acids (LC-PUFA) status of children with PKU is often compromised. LC-PUFA, which are important fatty acids in the development of the CNS, can be synthesised endogenously fr...

    M A Cleary, F Feillet, F J White, M Vidailhet… in European Journal of Clinical Nutrition (2006)

  3. 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)

  4. No Access

    Article

    Relationship between D 1 dopamine receptors, adenylate cyclase, and the electrophysiological responses of rat nucleus accumbens neurons

    The electrophysiological effects of three selective D 1 dopamine (DA) receptor agonists, which exhibit different potencies and efficacies for stimulation of adenylate cyclase, were compared in the rat nucleus ...

    P. A. Johansen, X. -T. Hu, F. J. White in Journal of Neural Transmission / General S… (1991)