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  1. 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)

  2. No Access

    Article

    Myc overexpression brings out unexpected antiapoptotic effects of miR-34a

    Downregulation of microRNA-34a by Myc is known to be essential for tumorigenesis and improve tumor-cell survival. Conversely, upregulation of miR-34a by p53 is thought to enhance its acetylation and activity a...

    E Sotillo, T Laver, H Mellert, J M Schelter, M A Cleary, S McMahon… in Oncogene (2011)

  3. Article

    Open Access

    RNAi-mediated germline knockdown of FABP4 increases body weight but does not improve the deranged nutrient metabolism of diet-induced obese mice

    To investigate the impact of reduced adipocyte fatty acid-binding protein 4 (FABP4) in control of body weight, glucose and lipid homeostasis in diet-induced obese (DIO) mice.

    R Yang, G Castriota, Y Chen, M A Cleary, K Ellsworth… in International Journal of Obesity (2011)

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  4. 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)

  5. 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)

  6. No Access

    Article

    Comparative assessment of siRNA and shRNA off target effects: what is slowing clinical development

    This review considers comparisons of the off-target effects of siRNA to shRNA and their potential impact on the efficacy and toxicity of RNAi based therapeutics.

    D D Rao, N Senzer, M A Cleary, J Nemunaitis in Cancer Gene Therapy (2009)

  7. 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)

  8. 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)

  9. 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)

  10. 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)

  11. 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)

  12. No Access

    Article

    Immune function in prolidase deficiency

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