Literature DB >> 2566668

Progress in the identification of the heterozygote in phenylketonuria.

W D Lehmann1.   

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Year:  1989        PMID: 2566668     DOI: 10.1016/s0022-3476(89)80431-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  6 in total

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

Authors:  M Spada; I Dianzani; G Bonetti; A Biondi; L Leone; S Giannattasio; A Ponzone
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

2.  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

3.  Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method.

Authors:  F Güneral; I Ozalp; H Tatlidil
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

4.  Aberrant phenylalanine metabolism in phenylketonuria heterozygotes.

Authors:  P Guldberg; K F Henriksen; H C Lou; F Güttler
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

5.  Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin.

Authors:  T Alós; Y Bel; M L Cabello; J L Catalá; J Dalmau; J Ferré; A M García; P Ruiz-Vázquez
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Genetic analysis of treated and untreated phenylketonuria in one family.

Authors:  L A Tyfield; A L Meredith; M J Osborn; R Primavesi; T L Chambers; J B Holton; P S Harper
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

  6 in total

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