Literature DB >> 1405481

Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives.

N Blau1, L Kierat, H C Curtius, M Blaskovics, T Giudici.   

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Year:  1992        PMID： 1405481     DOI： 10.1007/bf02435990

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


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  10 in total

1.  Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.

Authors:  J L Dhondt; P Guibaud; M O Rolland; C Dorche; S Andre; G Forzy; J M Hayte
Journal:  Eur J Pediatr       Date:  1988-02       Impact factor: 3.183

2.  Primapterinuria: a new variant of atypical phenylketonuria.

Authors:  N Blau; H C Curtius; T Kuster; A Matasovic; G Schoedon; J L Dhondt; P Guibaud; T Giudici; M Blaskovics
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  A new variant of biopterin deficiency.

Authors:  M Blaskovics; T A Giudici
Journal:  N Engl J Med       Date:  1988-12-15       Impact factor: 91.245

4.  New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins.

Authors:  N Blau; J L Dhondt; P Guibaud; T Kuster; H C Curtius
Journal:  Eur J Pediatr       Date:  1988-11       Impact factor: 3.183

5.  High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins.

Authors:  A Niederwieser; W Staudenmann; E Wetzel
Journal:  J Chromatogr       Date:  1984-05-04

6.  Analysis of reduced forms of biopterin in biological tissues and fluids.

Authors:  T Fukushima; J C Nixon
Journal:  Anal Biochem       Date:  1980-02       Impact factor: 3.365

7.  7-Substituted pterins: formation during phenylalanine hydroxylation in the absence of dehydratase.

Authors:  H C Curtius; C Adler; I Rebrin; C Heizmann; S Ghisla
Journal:  Biochem Biophys Res Commun       Date:  1990-11-15       Impact factor: 3.575

8.  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

9.  7-Substituted pterins. A new class of mammalian pteridines.

Authors:  H C Curtius; A Matasovic; G Schoedon; T Kuster; P Guibaud; T Giudici; N Blau
Journal:  J Biol Chem       Date:  1990-03-05       Impact factor: 5.157

10.  Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.

Authors:  H C Curtius; T Kuster; A Matasovic; N Blau; J L Dhondt
Journal:  Biochem Biophys Res Commun       Date:  1988-06-16       Impact factor: 3.575
  10 in total
  2 in total

1.  Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

Authors:  B Thöny; F Neuheiser; L Kierat; M Blaskovics; P H Arn; P Ferreira; I Rebrin; J Ayling; N Blau
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

2.  Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.

Authors:  B A Citron; S Kaufman; S Milstien; E W Naylor; C L Greene; M D Davis
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025
  2 in total

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