Literature DB >> 4118080

Nature of the molecular defect in phenylketonuria and hyperphenylalaninaemia.

P A Friedman, S Kaufman, E S Kang.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1972        PMID: 4118080     DOI: 10.1038/240157a0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


× No keyword cloud information.
  9 in total

1.  Genetics of the mammalian phenylalanine hydroxylase system. II. Immunological and two-dimensional gel electrophoretic studies of phenylalanine hydroxylase in cultured normal and mutant rat hepatoma cells.

Authors:  K H Choo; R G Cotton
Journal:  Biochem Genet       Date:  1979-10       Impact factor: 1.890

2.  Phenylalanine Monitoring via Aptamer-Field-Effect Transistor Sensors.

Authors:  Kevin M Cheung; Kyung-Ae Yang; Nako Nakatsuka; Chuanzhen Zhao; Mao Ye; Michael E Jung; Hongyan Yang; Paul S Weiss; Milan N Stojanović; Anne M Andrews
Journal:  ACS Sens       Date:  2019-11-01       Impact factor: 7.711

3.  GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.

Authors:  J Marvit; A G DiLella; K Brayton; F D Ledley; K J Robson; S L Woo
Journal:  Nucleic Acids Res       Date:  1987-07-24       Impact factor: 16.971

Review 4.  Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.

Authors:  Dominic J Gessler; Guangping Gao
Journal:  Methods Mol Biol       Date:  2016

5.  Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.

Authors:  K H Choo; R G Cotton; D M Danks; I G Jennings
Journal:  Biochem J       Date:  1979-08-01       Impact factor: 3.857

6.  Studies on the molecular defect in phenylketonuria and hyperphenylalaninaemia using antibodies against phenylalanine hydroxylase.

Authors:  K Bartholomé; A Dresel
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

7.  Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.

Authors:  P A Friedman; D B Fisher; E S Kang; S Kaufman
Journal:  Proc Natl Acad Sci U S A       Date:  1973-02       Impact factor: 11.205

8.  Observations indicating the nature of the mutation in phenylketonuria.

Authors:  K H Choo; R G Cotton; I G Jennings; D M Danks
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

9.  Inborn errors of metabolism. Vitamin-responsive genetic disease.

Authors:  S H Mudd
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.