Literature DB >> 10384371

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

N Blau1, B Thöny, A Renneberg, J M Penzien, K Hyland, G F Hoffmann.   

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Year:  1999        PMID： 10384371     DOI： 10.1023/a:1005584627797

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


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  4 in total

1.  Dihydropteridine reductase deficiency localized to the central nervous system.

Authors:  N Blau; B Thöny; A Renneberg; L A Arnold; K Hyland
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

2.  Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.

Authors:  K Hyland; J S Fryburg; W G Wilson; E M Bebin; L A Arnold; R S Gunasekera; R D Jacobson; E Rost-Ruffner; J M Trugman
Journal:  Neurology       Date:  1997-05       Impact factor: 9.910

3.  Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.

Authors:  A Ponzone; O Guardamagna; M Spada; S Ferraris; R Ponzone; L Kierat; N Blau
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

4.  Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.

Authors:  A Ponzone; O Guardamagna; I Dianzani; R Ponzone; G B Ferrero; M Spada; R G Cotton
Journal:  Pediatr Res       Date:  1993-02       Impact factor: 3.756
  4 in total
  14 in total

Review 1.  Neurochemistry and defects of biogenic amine neurotransmitter metabolism.

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

2.  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

3.  Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Authors:  L J Spaapen; J A Bakker; C Velter; W Loots; M E Rubio-Gozalbo; P P Forget; L Dorland; T J De Koning; B T Poll-The; H K Ploos van Amstel; J Bekhof; N Blau; M Duran; M E Rubio-Gonzalbo
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

4.  High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).

Authors:  Shelley R Winn; Tanja Scherer; Beat Thöny; Cary O Harding
Journal:  Mol Genet Metab       Date:  2015-11-26       Impact factor: 4.797

5.  A murine model for human sepiapterin-reductase deficiency.

Authors:  Seungkyoung Yang; Young Jae Lee; Jin-Man Kim; Sean Park; Joanna Peris; Philip Laipis; Young Shik Park; Jae Hoon Chung; S Paul Oh
Journal:  Am J Hum Genet       Date:  2006-01-31       Impact factor: 11.025

6.  A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.

Authors:  Daelyn Y Richards; Shelley R Winn; Sandra Dudley; Lev Fedorov; Nicole Rimann; Beat Thöny; Cary O Harding
Journal:  Mol Genet Metab       Date:  2020-09-30       Impact factor: 4.797

7.  Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice.

Authors:  Shelley R Winn; Tanja Scherer; Beat Thöny; Ming Ying; Aurora Martinez; Sydney Weber; Jacob Raber; Cary O Harding
Journal:  Mol Genet Metab       Date:  2017-10-19       Impact factor: 4.797

8.  Influence of early stress on social abilities and serotonergic functions across generations in mice.

Authors:  Tamara B Franklin; Natacha Linder; Holger Russig; Beat Thöny; Isabelle M Mansuy
Journal:  PLoS One       Date:  2011-07-25       Impact factor: 3.240

9.  Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice.

Authors:  Shelley R Winn; Sandra Dudley; Tanja Scherer; Nicole Rimann; Beat Thöny; Sydney Boutros; Destine Krenik; Jacob Raber; Cary O Harding
Journal:  Mol Genet Metab       Date:  2022-03-21       Impact factor: 4.204

Review 10.  Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

Authors:  Thomas Opladen; Eduardo López-Laso; Elisenda Cortès-Saladelafont; Toni S Pearson; H Serap Sivri; Yilmaz Yildiz; Birgit Assmann; Manju A Kurian; Vincenzo Leuzzi; Simon Heales; Simon Pope; Francesco Porta; Angeles García-Cazorla; Tomáš Honzík; Roser Pons; Luc Regal; Helly Goez; Rafael Artuch; Georg F Hoffmann; Gabriella Horvath; Beat Thöny; Sabine Scholl-Bürgi; Alberto Burlina; Marcel M Verbeek; Mario Mastrangelo; Jennifer Friedman; Tessa Wassenberg; Kathrin Jeltsch; Jan Kulhánek; Oya Kuseyri Hübschmann
Journal:  Orphanet J Rare Dis       Date:  2020-05-26       Impact factor: 4.123
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