Literature DB >> 2174091

Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.

H Mikami1, Y Matsubara, K Hayasaka, K Narisawa, M Obinata, A Watanabe, K Haginoya, S Miyabayashi, K Tada, H H Dahl.   

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Year:  1990        PMID： 2174091     DOI： 10.1007/BF01799589

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  Malignant hyperphenylalaninaemia--current status (June 1977).

Authors:  D M Danks; K Bartholomé; B E Clayton; H Curtius; H Gröbe; S Kaufman; R Leeming; W Pfleiderer; H Rembold; F Rey
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Lipofection: a highly efficient, lipid-mediated DNA-transfection procedure.

Authors:  P L Felgner; T R Gadek; M Holm; R Roman; H W Chan; M Wenz; J P Northrop; G M Ringold; M Danielsen
Journal:  Proc Natl Acad Sci U S A       Date:  1987-11       Impact factor: 11.205

3.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

4.  A sibling case of hyperphenylalaninemia due to a deficiency of dihydropteridine reductase: biochemical and pathological findings.

Authors:  K Tada; K Narisawa; N Arai; Y Ogasawara; S Ishizawa
Journal:  Tohoku J Exp Med       Date:  1980-10       Impact factor: 1.848

5.  Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.

Authors:  H H Dahl; W Hutchison; W McAdam; S Wake; F J Morgan; R G Cotton
Journal:  Nucleic Acids Res       Date:  1987-03-11       Impact factor: 16.971

6.  Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay.

Authors:  K Narisawa; N Arai; S Ishizawa; Y Ogasawara; A Onuma; K Iinuma; K Tada
Journal:  Clin Chim Acta       Date:  1980-08-19       Impact factor: 3.786

7.  Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease.

Authors:  J M Chirgwin; A E Przybyla; R J MacDonald; W J Rutter
Journal:  Biochemistry       Date:  1979-11-27       Impact factor: 3.162
  7 in total

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