Literature DB >> 52081

Letter: New forms of phenylketonuria.

S Kaufman, S Milstien, K Bartholomé.   

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Year:  1975        PMID： 52081     DOI： 10.1016/s0140-6736(75)90806-5

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  6 in total

1.  Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.

Authors:  R J Leeming; I Smith
Journal:  Arch Dis Child       Date:  1979-02       Impact factor: 3.791

2.  A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.

Authors:  P M Smooker; J Christodoulou; R R McInnes; R G Cotton
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

3.  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

Review 4.  Diseases of phenylalanine metabolism.

Authors:  C E Parker
Journal:  West J Med       Date:  1979-10

5.  Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.

Authors:  M D Davis; S Kaufman; S Milstien
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-15       Impact factor: 11.205

6.  Hyperphenylalaninaemia caused by defects in biopterin metabolism.

Authors:  S Kaufman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  6 in total

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