Literature DB >> 2878116

Molecular genetics of PKU.

F Güttler, S L Woo.   

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Year:  1986        PMID： 2878116     DOI： 10.1007/bf01800859

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


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  10 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.  Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria.

Authors:  A G DiLella; F D Ledley; F Rey; A Munnich; S L Woo
Journal:  Lancet       Date:  1985-01-19       Impact factor: 79.321

4.  Prenatal diagnosis of classical phenylketonuria by gene mapping.

Authors:  S L Woo; A S Lidsky; F Güttler; C Thirumalachary; K J Robson
Journal:  JAMA       Date:  1984-04-20       Impact factor: 56.272

5.  Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

Authors:  S H Orkin; H H Kazazian; S E Antonarakis; S C Goff; C D Boehm; J P Sexton; P G Waber; P J Giardina
Journal:  Nature       Date:  1982-04-15       Impact factor: 49.962

6.  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

7.  Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

Authors:  A S Lidsky; M L Law; H G Morse; F T Kao; M Rabin; F H Ruddle; S L Woo
Journal:  Proc Natl Acad Sci U S A       Date:  1985-09       Impact factor: 11.205

8.  Gene transfer and expression of human phenylalanine hydroxylase.

Authors:  F D Ledley; H E Grenett; A G DiLella; S C Kwok; S L Woo
Journal:  Science       Date:  1985-04-05       Impact factor: 47.728

9.  Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.

Authors:  S L Woo; A S Lidsky; F Güttler; T Chandra; K J Robson
Journal:  Nature       Date:  1983 Nov 10-16       Impact factor: 49.962

10.  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 in total
  6 in total

1.  A synopsis of the unconjugated acidic transamination metabolites of phenylalanine in phenylketonuria.

Authors:  U Langenbeck; A Behbehani; A Mench-Hoinowski
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic.

Authors:  O Riess; A Michel; A Speer; W Meiske; G Cobet; C Coutelle
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

3.  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

4.  Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese.

Authors:  S H Chen; K J Hsiao; L H Lin; T T Liu; R B Tang; T S Su
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

5.  Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.

Authors:  F Güttler; P Guldberg; K F Henriksen; I Mikkelsen; B Olsen; H Lou
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 6.  Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.

Authors:  Khalid M Sumaily; Ahmed H Mujamammi
Journal:  Int J Health Sci (Qassim)       Date:  2017 Nov-Dec
  6 in total

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