Literature DB >> 3489828

Unsolved problems in diagnosis and therapy of hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism.

S Kaufman.   

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Year:  1986        PMID: 3489828     DOI: 10.1016/s0022-3476(86)80215-3

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  6 in total

1.  Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.

Authors:  H H Dahl; W Hutchison; W McAdam; S Wake; F J Morgan; R G Cotton
Journal:  Nucleic Acids Res       Date:  1987-03-11       Impact factor: 16.971

2.  Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes.

Authors:  C R Scriver; C L Clow; P Kaplan; A Niederwieser
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

3.  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

Review 4.  Abnormalities of biogenic amine metabolism.

Authors:  K Hyland
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.

Authors:  H Schmidt; K Ullrich; R Korinthenberg; P E Peters
Journal:  Pediatr Radiol       Date:  1988

6.  The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.

Authors:  B K Burton; D K Grange; A Milanowski; G Vockley; F Feillet; E A Crombez; V Abadie; C O Harding; S Cederbaum; D Dobbelaere; A Smith; A Dorenbaum
Journal:  J Inherit Metab Dis       Date:  2007-09-12       Impact factor: 4.982

  6 in total

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