Literature DB >> 7807954

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

U Lichter-Konecki1, A Rupp, D S Konecki, F K Trefz, H Schmidt, P Burgard.   

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Year:  1994        PMID： 7807954     DOI： 10.1007/bf00711831

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


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  6 in total

1.  Study design and description of patients.

Authors:  P Lutz; H Schmidt; U Batzler
Journal:  Eur J Pediatr       Date:  1990       Impact factor: 3.183

2.  The phenylketonuria G272X haplotype 7 mutation in European populations.

Authors:  J Apold; H G Eiken; E Svensson; E Kunert; L Kozak; P Cechak; F Güttler; J Giltay; U Lichter-Konecki; D Melle
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

3.  Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis.

Authors:  D S Konecki; S Schweitzer-Krantz; D Byrd; F K Trefz; U Lichter-Konecki
Journal:  Eur J Pediatr       Date:  1993-12       Impact factor: 3.183

4.  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

Review 5.  Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.

Authors:  R C Eisensmith; S L Woo
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

6.  Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.

Authors:  E Svensson; U von Döbeln; R C Eisensmith; L Hagenfeldt; S L Woo
Journal:  Eur J Pediatr       Date:  1993-02       Impact factor: 3.183
  6 in total
  5 in total

1.  Molecular basis of mild hyperphenylalaninaemia in Poland.

Authors:  C Zekanowski; M Nowacka; B Cabalska; J Bal
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

Review 2.  The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.

Authors:  F Güttler; P Guldberg
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

3.  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

4.  In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.

Authors:  P Guldberg; I Mikkelsen; K F Henriksen; H C Lou; F Güttler
Journal:  Eur J Pediatr       Date:  1995-07       Impact factor: 3.183

5.  Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

Authors:  F J van Spronsen; M van Rijn; B Dorgelo; M Hoeksma; A M Bosch; M F Mulder; J B C de Klerk; T de Koning; M Estela Rubio-Gozalbo; M de Vries; P H Verkerk
Journal:  J Inherit Metab Dis       Date:  2009-01-10       Impact factor: 4.982
  5 in total

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