Literature DB >> 8131811

Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis.

D S Konecki, S Schweitzer-Krantz, D Byrd, F K Trefz, U Lichter-Konecki.   

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Year:  1993        PMID： 8131811     DOI： 10.1007/bf01957239

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  3 in total

Review 1.  The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Authors:  D S Konecki; U Lichter-Konecki
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

2.  The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.

Authors:  D S Konecki; M Schlotter; F K Trefz; U Lichter-Konecki
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

3.  Molecular basis of phenotypic heterogeneity in phenylketonuria.

Authors:  Y Okano; R C Eisensmith; F Güttler; U Lichter-Konecki; D S Konecki; F K Trefz; M Dasovich; T Wang; K Henriksen; H Lou
Journal:  N Engl J Med       Date:  1991-05-02       Impact factor: 91.245
  3 in total
  2 in total

1.  Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. German Collaborative Study of PKU.

Authors:  U Lichter-Konecki; A Rupp; D S Konecki; F K Trefz; H Schmidt; P Burgard
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

2.  Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria.

Authors:  P Burgard; A Rupp; D S Konecki; F K Trefz; H Schmidt; U Lichter-Konecki
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183
  2 in total

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