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  1. No Access

    Article

    The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

    This study aimed to evaluate the response to and safety of an 8-day course of sapropterin dihydrochloride (6R-tetrahydrobiopterin or 6R-BH4) 10 mg/kg per day in patients with phenylketonuria (PKU), who have eleva...

    B. K. Burton, D. K. Grange, A. Milanowski… in Journal of Inherited Metabolic Disease (2007)

  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

    Alternative pathway therapy for urea cycle disorders

    In man the major pathway for the disposal of waste nitrogen is the urea cycle; in inborn errors of this pathway, nitrogen flux is reduced. As a result there is accumulation of ammonia and glutamine with disord...

    F. Feillet, J. V. Leonard in Journal of Inherited Metabolic Disease (1998)

  4. No Access

    Article

    Increased resting energy expenditure in glycogen storage disease type Ia

    F. Feillet, O. A. F. Bodamer, J. V. Leonard in Journal of Inherited Metabolic Disease (1998)