Literature DB >> 6438398

A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes.

H Nakabayashi, M Owada, T Kitagawa.   

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Year:  1984        PMID: 6438398     DOI: 10.1007/bf01801774

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


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  5 in total

1.  Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells.

Authors:  F A Firgaira; R G Cotton; D M Danks
Journal:  Lancet       Date:  1979-12-15       Impact factor: 79.321

2.  Dihydropteridine reductase. A method for the measurement of activity, and investigations of the specificity for NADH and NADPH.

Authors:  K H Nielsen; V Simonsen; K E Lind
Journal:  Eur J Biochem       Date:  1969-07

3.  Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.

Authors:  N Arai; K Narisawa; H Hayakawa; K Tada
Journal:  Pediatrics       Date:  1982-09       Impact factor: 7.124

4.  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

5.  A simple procedure for purification of NADH-specific dihydropteridine reductase from mammalian liver.

Authors:  N Nakanisi; K Hirayama; S Yamada
Journal:  J Biochem       Date:  1982-10       Impact factor: 3.387

  5 in total
  3 in total

Review 1.  Atypical cases of phenylketonuria.

Authors:  J L Dhondt; J P Farriaux
Journal:  Eur J Pediatr       Date:  1987       Impact factor: 3.183

2.  Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

Authors:  I Dianzani; D W Howells; A Ponzone; J A Saleeba; P M Smooker; R G Cotton
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

3.  Two mutations of dihydropteridine reductase deficiency.

Authors:  A Ponzone; O Guardamagna; S Ferraris; G Bracco; A Niederwieser; R G Cotton
Journal:  Arch Dis Child       Date:  1988-02       Impact factor: 3.791

  3 in total

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