Literature DB >> 3099067

Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.

R G Cotton, I Jennings, G Bracco, A Ponzone, O Guardamagna.   

Abstract

Correlation of the response to a load of tetrahydrobiopterin (BH4) in dihydropterin reductase (DHPR) deficient patients to the type of mutation in these patients has led to the conclusion that 4 patients without mutant DHPR molecules in their cells respond to the BH4 load, whereas 3 patients with mutant DHPR in their cells do not respond. Intravenous injection of BH4 in 1 of the cases not responding to BH4 again showed no response.

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Year:  1986        PMID： 3099067     DOI： 10.1007/bf01799654

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


  13 in total

1.  [Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].

Authors:  F Rey; J P Harpey; R J Leeming; J A Blair; J Aicardi; J Rey
Journal:  Arch Fr Pediatr       Date:  1977 Aug-Sep

2.  Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.

Authors:  H C Curtius; A Niederwieser; M Viscontini; A Otten; J Schaub; S Scheibenreiter; H Schmidt
Journal:  Clin Chim Acta       Date:  1979-04-16       Impact factor: 3.786

3.  Dihydropteridine reductase. A method for the measurement of activity, and investigations of the specificity for NADH and NADPH.

Authors:  K H Nielsen; V Simonsen; K E Lind
Journal:  Eur J Biochem       Date:  1969-07

4.  Cleavage of structural proteins during the assembly of the head of bacteriophage T4.

Authors:  U K Laemmli
Journal:  Nature       Date:  1970-08-15       Impact factor: 49.962

5.  Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria.

Authors:  D M Danks; R G Cotton; P Schlesinger
Journal:  Lancet       Date:  1975-11-22       Impact factor: 79.321

6.  Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.

Authors:  A Lipson; J Yu; M O'Halloran; M Potter; B Wilken
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

7.  Molecular and immunological comparison of human dihydropteridine reductase in liver, cultured fibroblasts and continuous lymphoid cells.

Authors:  F A Firgaira; K H Choo; R G Cotton; D M Danks
Journal:  Biochem J       Date:  1981-07-01       Impact factor: 3.857

8.  Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.

Authors:  F A Firgaira; K H Choo; R G Cotton; D M Danks
Journal:  Biochem J       Date:  1981-09-15       Impact factor: 3.857

9.  Human dihydropteridine reductase: a method for the measurement of activity in cultured cells, and its application to malignant hyperphenylalaninemia.

Authors:  F A Firgaira; R G Cotton; D M Danks
Journal:  Clin Chim Acta       Date:  1979-07-02       Impact factor: 3.786

10.  Malignant hyperphenylalaninemia--clinical features, biochemical findings, and experience with administration of biopterins.

Authors:  D M Danks; P Schlesinger; F Firgaira; R G Cotton; B M Watson; H Rembold; G Hennings
Journal:  Pediatr Res       Date:  1979-10       Impact factor: 3.756
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  7 in total

Review 1.  Atypical cases of phenylketonuria.

Authors:  J L Dhondt; J P Farriaux
Journal:  Eur J Pediatr       Date:  1987       Impact factor: 3.183

2.  Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

Authors:  I Dianzani; D W Howells; A Ponzone; J A Saleeba; P M Smooker; R G Cotton
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

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.  Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns.

Authors:  A H Lipson; J W Earl; B Wilcken; J S Yu; M O'Halloran; R G Cotton
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

5.  The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.

Authors:  H H Dahl; S Wake; R G Cotton; D M Danks
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

6.  Two mutations of dihydropteridine reductase deficiency.

Authors:  A Ponzone; O Guardamagna; S Ferraris; G Bracco; A Niederwieser; R G Cotton
Journal:  Arch Dis Child       Date:  1988-02       Impact factor: 3.791

7.  Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.

Authors:  Mahoko Furujo; Masako Kinoshita; Yozo Ichiba; Anne Romstad; Haruo Shintaku; Toshihide Kubo
Journal:  Epilepsy Behav Case Rep       Date:  2014-03-13
  7 in total

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