Literature DB >> 6844267

Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia.

F A Firgaira, R G Cotton, D M Danks, K Fowler, A Lipson, J S Yu.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1983        PMID： 6844267     DOI： 10.1002/pd.1970030103

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


× No keyword cloud information.
  7 in total

1.  Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.

Authors:  J L Dhondt; P Tilmont; J Ringel; J P Farriaux
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).

Authors:  A Romstad; H S Kalkanoğlu; T Coşkun; M Demirkol; A Tokatli; A Dursun; T Baykal; I Ozalp; P Guldberg; F Güttler
Journal:  Hum Genet       Date:  2000-12       Impact factor: 4.132

3.  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

4.  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

5.  Restriction fragment length polymorphisms among Japanese detected with a dihydropteridine reductase cDNA gene probe.

Authors:  K Hayasaka; K Narisawa; T Ohura; E Ogawa; H H Dahl
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

6.  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

7.  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
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.