Literature DB >> 6820430

A case of tetrahydrobiopterin deficiency due to a defective synthesis of dihydrobiopterin.

Y Hase, H Shintaku, T Turuhara, T Oura, M Kobashi, K Iwai.   

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Year:  1982        PMID： 6820430     DOI： 10.1007/bf01799997

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


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  5 in total

1.  Phenylketonuria due to a deficiency of dihydropteridine reductase.

Authors:  S Kaufman; N A Holtzman; S Milstien; L J Butler; A Krumholz
Journal:  N Engl J Med       Date:  1975-10-16       Impact factor: 91.245

2.  Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.

Authors:  R J Leeming; J A Blair; A Green; D N Raine
Journal:  Arch Dis Child       Date:  1976-10       Impact factor: 3.791

3.  Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.

Authors:  A Niederwieser; H C Curtius; O Bettoni; J Bieri; B Schircks; M Viscontini; J Schaub
Journal:  Lancet       Date:  1979-01-20       Impact factor: 79.321

4.  New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.

Authors:  I Smith; B E Clayton; O H Wolff
Journal:  Lancet       Date:  1975-05-17       Impact factor: 79.321

5.  Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.

Authors:  S Kaufman; S Berlow; G K Summer; S Milstien; J D Schulman; S Orloff; S Spielberg; S Pueschel
Journal:  N Engl J Med       Date:  1978-09-28       Impact factor: 91.245
  5 in total
  3 in total

Review 1.  Pteridines and mono-amines: relevance to neurological damage.

Authors:  I Smith; D W Howells; K Hyland
Journal:  Postgrad Med J       Date:  1986-02       Impact factor: 2.401

2.  Hyperphenylalaninaemia due to impaired dihydrobiopterin biosynthesis: leukocyte function and effect of tetrahydrobiopterin therapy.

Authors:  K Fukuda; T Tanaka; S Hyodo; Y Kobayashi; T Usui
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

3.  Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.

Authors:  I Smith; K Hyland; B Kendall
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  3 in total

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