Literature DB >> 1405480

Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.

C Adler1, S Ghisla, I Rebrin, C W Heizmann, N Blau, H C Curtius.   

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Year:  1992        PMID： 1405480     DOI： 10.1007/bf02435989

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


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  6 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.  Purification and assay of rat liver phenylalanine 4-monooxygenase.

Authors:  R Shiman
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

3.  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

4.  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

5.  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

6.  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
  6 in total
  1 in total

1.  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
  1 in total

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