Literature DB >> 20259098

Studies on phenylpyruvic oligophrenia; the position of the metabolic error.

G A JERVIS.   

Abstract

Entities:  

Keywords:  FEEBLEMINDEDNESS

Mesh：

Year:  1947        PMID： 20259098

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


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  9 in total

1.  [On the biochemistry of essential pentosuria, congenital galactosemia and phenylketonuria].

Authors:  S HOLLMANN
Journal:  Klin Wochenschr       Date:  1959-07-15

2.  Abnormal amino acid metabolism and brain protein synthesis during neural development.

Authors:  J V Hughes; T C Johnson
Journal:  Neurochem Res       Date:  1978-08       Impact factor: 3.996

Review 3.  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

4.  Dietary therapy in a case of phenylketonuria in India.

Authors:  R T Bajaj; Z M Patel; L M Ambani; B S Rao; S M Merchant
Journal:  Indian J Pediatr       Date:  1981 Mar-Apr       Impact factor: 1.967

5.  Phenylketonuria: an inborn error of phenylalanine metabolism.

Authors:  Robin A Williams; Cyril D S Mamotte; John R Burnett
Journal:  Clin Biochem Rev       Date:  2008-02

6.  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

Review 7.  Phenylketonuria.

Authors:  Francjan J van Spronsen; Nenad Blau; Cary Harding; Alberto Burlina; Nicola Longo; Annet M Bosch
Journal:  Nat Rev Dis Primers       Date:  2021-05-20       Impact factor: 52.329

8.  Circulating metabolite homeostasis achieved through mass action.

Authors:  Xiaoxuan Li; Sheng Hui; Emily T Mirek; William O Jonsson; Tracy G Anthony; Won Dong Lee; Xianfeng Zeng; Cholsoon Jang; Joshua D Rabinowitz
Journal:  Nat Metab       Date:  2022-01-20

Review 9.  Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.

Authors:  Jovanka R King; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2017-11-08       Impact factor: 8.317
  9 in total

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