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  1. No Access

    Article

    A novel system for the production of fully deleted adenovirus vectors that does not require helper adenovirus

    Fully deleted adenovirus vectors (FD-AdVs) would appear to be promising tools for gene therapy. Since these vectors are deleted of all adenoviral genes, they require a helper adenovirus for their propagation. ...

    N Cheshenko, N Krougliak, R C Eisensmith, V A Krougliak in Gene Therapy (2001)

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    Article

    Somatic gene therapy for phenylketonuria and other hepatic deficiencies

    Gene therapy is the delivery of genetic material to specific cell types of an organism to alter its physiology or function. This technology is being explored as a means of treating diseases caused by deficienc...

    R. C. Eisensmith, S. L. C. Woo in Journal of Inherited Metabolic Disease (1996)

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    Article

    Gene therapy for phenylketonuria

    Classical phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). Limitations of the current dietary treatment for PKU have led to the develo...

    R. C. Eisensmith, S. L. C. Woo in European Journal of Pediatrics (1996)

  4. No Access

    Article

    Cognitive development related to metabolic phenotype and mutation genotype in 25 Hungarian patients with phenylketonuria

    A. Schuler, Cs. Somogyi, M. Máté, L. Pataki… in Journal of Inherited Metabolic Disease (1994)

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    Article

    Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients

    Phenylketonuria (PKU) and hyperphenylalaninemia (HPA) are caused mostly by an inherited (autosomal recessive) deficiency in hepatic phenylalanine hydroxylase (PAH) activity. More than 50 PAH mutations have ben...

    E. Svensson, U. von Döbeln, R. C. Eisensmith… in European Journal of Pediatrics (1993)

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    Article

    Molecular characterization of PKU allele prevalent in southern Europe and Ireland

    A novel substitution has been characterized in the phenylalanine hydroxylase (PAH) gene that is linked exclusively to mutant haplotype 6, which is prevalent in southern Europe but rare in northern and eastern ...

    M. Dasovich, D. Konecki, U. Lichter-Konecki… in Somatic Cell and Molecular Genetics (1991)

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    Article

    A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

    A missense mutation has been identified in the phenylalanine hydroxylase (PAH) gene of a Danish patient with hyperphenylalaninaemia (HPA). An A-to-G transition at the second base of codon 414 results in the su...

    Y. Okano, R. C. Eisensmith, M. Dasovich, T. Wang… in European Journal of Pediatrics (1991)