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8 Result(s)

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  1. No Access

    Article

    Immune function in prolidase deficiency

    M. A. Cleary, M. Heaney, J. M. Couriel… in Journal of Inherited Metabolic Disease (1994)

  2. No Access

    Article

    Galactosaemia: relationship of IQ to biochemical control and genotype

    M. A. Cleary, L. E. Heptinstall, J. E. Wraith… in Journal of Inherited Metabolic Disease (1995)

  3. No Access

    Article

    An Atlas of Common Metabolic and Genetic Diseases. Mohammed A. Al-Elessa, Nadia A. Sakati, Pinar T. Ozand

    M. A. Cleary in Journal of Inherited Metabolic Disease (1999)

  4. No Access

    Article

    Manual of Metabolic Diseases. Mohammed A. Al-Elessa and Pinar T. Ozand

    M. A. Cleary in Journal of Inherited Metabolic Disease (1999)

  5. No Access

    Article

    Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

    We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hy...

    M. A. Cleary, L. Dorland, T. J. de Koning… in Journal of Inherited Metabolic Disease (2005)

  6. No Access

    Article

    Changes in gait pattern as assessed by the GAITRite™ walkway system in MPS II patients undergoing enzyme replacement therapy

    Patients with MPS II often present with limitations to functional mobility. With the advent of enzyme replacement therapy (ERT), robust assessment tools are important to assess response to treatment. The aim o...

    M. Wood, M. A. Cleary, L. Alderson, A. Vellodi in Journal of Inherited Metabolic Disease (2009)

  7. No Access

    Article

    Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy

    Malonyl coenzyme A (CoA) decarboxylase (EC 4.1.1.9, MCD) deficiency, or malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyop...

    E. J. Footitt, J. Stafford, M. Dixon, M. Burch… in Journal of Inherited Metabolic Disease (2010)

  8. No Access

    Article

    Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

    Enzyme replacement therapy (ERT) for infantile-onset Pompe disease has been commercially available for almost 10 years. We report the experience of its use in a cohort treated at three specialist lysosomal tre...

    A. Broomfield, J. Fletcher, J. Davison… in Journal of Inherited Metabolic Disease (2016)