Literature DB >> 85126

Phenylketonuria variants.

A Niederwieser, H C Curtius, M Viscontini, J Schaub, H Schmidt.   

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Year:  1979        PMID： 85126     DOI： 10.1016/s0140-6736(79)90966-8

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  5 in total

Review 1.  A research framework for evaluating the promotion of mental health and prevention of mental illness.

Authors:  L Eisenberg
Journal:  Public Health Rep       Date:  1981 Jan-Feb       Impact factor: 2.792

2.  Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.

Authors:  H H Dahl; W Hutchison; W McAdam; S Wake; F J Morgan; R G Cotton
Journal:  Nucleic Acids Res       Date:  1987-03-11       Impact factor: 16.971

3.  Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency.

Authors:  L Wang; W-M Yu; C He; M Chang; M Shen; Z Zhou; Z Zhang; S Shen; T-T Liu; K-J Hsiao
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

4.  Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control.

Authors:  M Lindner; G Gramer; S F Garbade; P Burgard
Journal:  J Inherit Metab Dis       Date:  2009-06-10       Impact factor: 4.982

5.  Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man.

Authors:  A Niederwieser; H C Curtius; M Wang; D Leupold
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183
  5 in total

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