Literature DB >> 9686365

Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.

M Spada1, I Dianzani, G Bonetti, A Biondi, L Leone, S Giannattasio, A Ponzone.   

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Year:  1998        PMID： 9686365     DOI： 10.1023/a:1005355802928

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


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  4 in total

Review 1.  Progress in the identification of the heterozygote in phenylketonuria.

Authors:  W D Lehmann
Journal:  J Pediatr       Date:  1989-06       Impact factor: 4.406

2.  PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.

Authors:  P M Knappskog; H G Eiken; A Martínez; O Bruland; J Apold; T Flatmark
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

3.  Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

Authors:  E Svensson; L Iselius; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Characterization of phenylketonuria alleles in the Italian population.

Authors:  I Dianzani; S Giannattasio; L de Sanctis; C Alliaudi; P Lattanzio; C Dionisi Vici; A Burlina; M Burroni; G Sebastio; F Carnevale
Journal:  Eur J Hum Genet       Date:  1995       Impact factor: 4.246
  4 in total

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