Literature DB >> 980015

Atypical phenylketonuria with normal dihydropteridine reductase activity.

F Rey, F Blandin-Savoja, J Rey.   

Abstract

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Year:  1976        PMID： 980015     DOI： 10.1056/NEJM197611112952018

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  7 in total

1.  Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.

Authors:  H Gröbe; K Bartholome; S Milstien; S Kaufman
Journal:  Eur J Pediatr       Date:  1978-09-08       Impact factor: 3.183

2.  Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.

Authors:  O Kuseyri; A Weissbach; N Bruggemann; C Klein; M Giżewska; D Karall; S Scholl-Bürgi; H Romanowska; E Krzywińska-Zdeb; A A Monavari; I Knerr; Z Yapıcı; V Leuzzi; T Opladen
Journal:  J Inherit Metab Dis       Date:  2018-03-28       Impact factor: 4.982

Review 3.  Disorders of biopterin metabolism.

Authors:  Nicola Longo
Journal:  J Inherit Metab Dis       Date:  2009-02-09       Impact factor: 4.982

4.  [Molecular basis for the heterogeneity of phenylketonuria].

Authors:  K Bartholomé
Journal:  Naturwissenschaften       Date:  1980-10

5.  Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.

Authors:  M D Davis; S Kaufman; S Milstien
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-15       Impact factor: 11.205

6.  Hyperphenylalaninaemia caused by defects in biopterin metabolism.

Authors:  S Kaufman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 7.  Phenylketonuria: a review of current and future treatments.

Authors:  Naz Al Hafid; John Christodoulou
Journal:  Transl Pediatr       Date:  2015-10
  7 in total

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