Literature DB >> 2891509

Molecular biology of phenylketonuria.

F Güttler1, A G DiLella, F D Ledley, A S Lidsky, S C Kvok, J Marvit, S L Woo.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1987        PMID： 2891509     DOI： 10.1007/bf00442048

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


× No keyword cloud information.
  17 in total

1.  Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

Authors:  A S Lidsky; F D Ledley; A G DiLella; S C Kwok; S P Daiger; K J Robson; S L Woo
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

2.  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

3.  Heterogeneity in genetic control of phenylalanine metabolism in man.

Authors:  D Rosenblatt; C R Scriver
Journal:  Nature       Date:  1968-05-18       Impact factor: 49.962

4.  Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans.

Authors:  H H Kazazian; S H Orkin; A F Markham; C R Chapman; H Youssoufian; P G Waber
Journal:  Nature       Date:  1984 Jul 12-18       Impact factor: 49.962

5.  Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

Authors:  A G DiLella; J Marvit; A S Lidsky; F Güttler; S L Woo
Journal:  Nature       Date:  1986 Aug 28-Sep 3       Impact factor: 49.962

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

Review 7.  Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

Authors:  F Güttler
Journal:  Acta Paediatr Scand Suppl       Date:  1980

8.  Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.

Authors:  F D Ledley; H L Levy; S L Woo
Journal:  N Engl J Med       Date:  1986-05-15       Impact factor: 91.245

9.  Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

Authors:  K J Robson; T Chandra; R T MacGillivray; S L Woo
Journal:  Proc Natl Acad Sci U S A       Date:  1982-08       Impact factor: 11.205

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
View more
  9 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

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.  Molecular analysis of PKU haplotypes in the population of southern Poland.

Authors:  M Zygulska; A Eigel; C Aulehla-Scholz; J J Pietrzyk; J Horst
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

4.  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

5.  Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.

Authors:  U Lichter-Konecki; M Schlotter; F K Trefz; D S Konecki
Journal:  Eur J Pediatr       Date:  1989-11       Impact factor: 3.183

6.  RFLPs of the phenylalanine hydroxylase gene in the Italian population.

Authors:  I Dianzani; L Farinasso; P Fortina; C Camaschella; R Ponzone; H H Dahl; R G Cotton; A Ponzone
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 7.  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

8.  Mouse models of human phenylketonuria.

Authors:  A Shedlovsky; J D McDonald; D Symula; W F Dove
Journal:  Genetics       Date:  1993-08       Impact factor: 4.562

9.  Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

Authors:  I Dianzani; M Devoto; C Camaschella; G Saglio; G B Ferrero; R Cerone; C Romano; G Romeo; M Giovannini; E Riva
Journal:  Hum Genet       Date:  1990-11       Impact factor: 4.132
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.