Literature DB >> 2573272

Molecular genetics of phenylketonuria and its implications.

H L Levy1.   

Abstract

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Year:  1989        PMID： 2573272      PMCID： PMC1683445     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  29 in total

1.  The influence of phenylalanine intake on the chemistry and behaviour of a phenyl-ketonuric child.

Authors:  H BICKEL; J GERRARD; E M HICKMANS
Journal:  Acta Paediatr       Date:  1954-01       Impact factor: 2.299

2.  Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

Authors:  F Rey; M Berthelon; C Caillaud; S Lyonnet; V Abadie; F Blandin-Savoja; J Feingold; J M Saudubray; J Frézal; A Munnich
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

3.  Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.

Authors:  S C Kwok; F D Ledley; A G DiLella; K J Robson; S L Woo
Journal:  Biochemistry       Date:  1985-01-29       Impact factor: 3.162

4.  Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

Authors:  S P Daiger; L Reed; S S Huang; Y T Zeng; T Wang; W H Lo; Y Okano; Y Hase; Y Fukuda; T Oura
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

5.  Diet policies of PKU clinics in the United States.

Authors:  V E Schuett; E S Brown
Journal:  Am J Public Health       Date:  1984-05       Impact factor: 9.308

6.  Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Authors:  R Chakraborty; A S Lidsky; S P Daiger; F Güttler; S Sullivan; A G Dilella; S L Woo
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132

7.  Projections of a rebound in frequency of mental retardation from phenylketonuria.

Authors:  H N Kirkman
Journal:  Appl Res Ment Retard       Date:  1982

8.  Intellectual assessment of 111 four-year-old children with phenylketonuria.

Authors:  J C Dobson; M L Williamson; C Azen; R Koch
Journal:  Pediatrics       Date:  1977-12       Impact factor: 7.124

9.  Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.

Authors:  S Kaufman; S Berlow; G K Summer; S Milstien; J D Schulman; S Orloff; S Spielberg; S Pueschel
Journal:  N Engl J Med       Date:  1978-09-28       Impact factor: 91.245

10.  Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria.

Authors:  F Güttler; F D Ledley; A S Lidsky; A G DiLella; S E Sullivan; S L Woo
Journal:  J Pediatr       Date:  1987-01       Impact factor: 4.406
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  7 in total

1.  Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

Authors:  P Labrune; D Melle; F Rey; M Berthelon; C Caillaud; J Rey; A Munnich; S Lyonnet
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

Review 2.  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

3.  Two distinct mutations at a single BamHI site in phenylketonuria.

Authors:  D Melle; P Verelst; F Rey; M Berthelon; B François; A Munnich; S Lyonnet
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

4.  Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

Authors:  T Wang; Y Okano; R C Eisensmith; M L Harvey; W H Lo; S Z Huang; Y T Zeng; L F Yuan; J I Furuyama; T Oura
Journal:  Proc Natl Acad Sci U S A       Date:  1991-03-15       Impact factor: 11.205

5.  The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria.

Authors:  J Jaruzelska; K F Henriksen; F Güttler; O Riess; K Borski; N Blin; R Slomski
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

6.  Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.

Authors:  S Lyonnet; D Melle; M de Braekeleer; R Laframboise; F Rey; S W John; M Berthelon; J Berthelot; H Journel; B Le Marec
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

Review 7.  Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations.

Authors:  F D Ledley
Journal:  Eur J Pediatr       Date:  1991-09       Impact factor: 3.183
  7 in total

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