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  1.  

    Infantile SCA7 is associated with severe renal disease

    Maertens, P. / Manci, E. / Chen, T.J. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  2.  

    PITT-Hopkins syndrome and erythropoietic protoporphyria in a patient with 18Q21 deletion diagnosed by SNP array

    Tsiakas, K. / Grosse, R. / Uyanik, G. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  3.  

    Long term follow up of children identified through expanded newborn screening: clinical and public health aspects

    Botto, L.D. / Feuchtbaum, L. / Dowray, S. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  4.  

    Inborn errors of metabolism in neonatal and pediatric intensive care unit: five year expirience

    Djordjevic, M. / Sarajlija, A. / Nikitovic, J.M. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  5.  

    Native read-through of a nonsense mutation in a maple syrup urine disease patient

    Fernandez-Guerra, P. / Artuch, R. / Lambruschini, N. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  6.  

    High plasma folate levels in children with PKU

    Lilje, R. / Almaas, R. / Bliksrud, Y.T. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  7.  

    Body composition and markers of metabolic syndrome in adults with PKU

    Rocha, J.C. / Almeida, M.F. / Soares, G. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  8.  

    Comparative study of chimeric liver-specific promoter expression from a non-viral vector for hepatic gene therapy

    Viecelli, H.M. / Wong, S.P. / Harbottle, R.P. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  9.  

    Plasma 3-o-methyl dopa as a screening biomarker for aromatic amino acid decarboxylase (AADC) deficiency and other neurotransmitter disorders

    Turner, C. / Lumsden, D. / Rahman, Y. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  10.  

    Plasticity of postsynaptic, but not presynaptic, gaba(B) receptors in aldehyde dehydrogenase 5A1 (ALDH5A1; succinic semialdehyde dehydrogenase) deficient mice

    Vardya, I. / Drasbek, K.R. / Jensen, K. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  11.  

    Clinical outcomes of 20 patients with Menkes disease

    Kodama, H. / Fujisawa, C. / Shiga, H. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  12.  

    Atypical presentation of antiquitin deficiency in a female with neonatal hypoglycemia, hyperlacticacidemia and intractable myoclonic epilepsy

    Mercimek-Mahmutoglu, S. / Horvath, G.A. / Coulter-Mackie, M. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  13.  

    Neurologic assessment in patients with Fabry disease before and after enzyme replacement therapy (ERT) with agalsidase beta

    Mendes, C.S.C. / Rand, M.H. / Kyosen, S.O. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  14.  

    Thrombocytopenia in Hunter disease: report of two cases

    Amartino, H. / Sosa, P. / Richard, L. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  15.  

    Our experiences of switching patients from fabrazyme to replagal

    Hallows, L. / Waldek, S. / Society for the Study of Inborn Errors of Metabolism | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  16.  

    Abdominal lymphadenopathy during enzyme replacement therapy: an emerging challenge of Gaucher disease?

    Sarajlija, A. / Djordjevic, M. / Kecman, B. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  17.  

    Four cases of Niemann-Pick type C disease presented with early onset cholestasis

    Kucukcongar, A. / Okur, I. / Ezgu, F.S. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  18.  

    Femoral head avascular necrosis and stroke-like lesions in a Gaucher type I patient heterozygous for factor V leyden: just a coincidence?

    Vairo, F. / Netto, C.B.O. / Dornelles, A. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  19.  

    Enzyme replacement therapy in 10 patients with MPS type-6

    Gul, E. / Payas, A. / Yilmaz, S. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors
  20.  

    A phase 4 two dose level study of galsulfase in mucopolysaccharidosis VI infants

    Harmatz, P. / Guffon, N. / Garcia, P. et al. | British Library Conference Proceedings | 2010
    Keywords: Inborn errors

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