Literature DB >> 9700606

Dihydropteridine reductase deficiency localized to the central nervous system.

N Blau1, B Thöny, A Renneberg, L A Arnold, K Hyland.   

Abstract

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Year:  1998        PMID： 9700606     DOI： 10.1023/a:1005327313348

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


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  4 in total

1.  Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.

Authors:  N Blau; B Thöny; A Renneberg; J M Penzien; K Hyland; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

Review 2.  Neurochemistry and defects of biogenic amine neurotransmitter metabolism.

Authors:  K Hyland
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

Authors:  L Bonafé; B Thöny; J M Penzien; B Czarnecki; N Blau
Journal:  Am J Hum Genet       Date:  2001-07-06       Impact factor: 11.025

Review 4.  Tetrahydrobiopterin biosynthesis, regeneration and functions.

Authors:  B Thöny; G Auerbach; N Blau
Journal:  Biochem J       Date:  2000-04-01       Impact factor: 3.857
  4 in total

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