Literature DB >> 6101503

Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells.

F A Firgaira, R G Cotton, D M Danks.   

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Year:  1980        PMID： 6101503     DOI： 10.1016/s0140-6736(80)90648-0

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  5 in total

1.  Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

Authors:  D W Howells; S M Forrest; H H Dahl; R G Cotton
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

2.  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

3.  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

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

Review 5.  Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future.

Authors:  Sabine Jung-Klawitter; Oya Kuseyri Hübschmann
Journal:  Cells       Date:  2019-08-09       Impact factor: 6.600
  5 in total

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