Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns-Reference-Cited by-同舟云学术

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

Published:1991-01 Issue:1 Volume:14 Page:49-52
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Lipson A. H.,Earl J. W.,Wilcken B.,Yu J. S.,O'Halloran M.,Cotton R. G. H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01804388

Reference15 articles.

1. Cotton, R. G. H., Jennings, I., Braco, G., Ponzone, A. and Guardamagna, O. Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.J. Inher. Metab. Dis. 9 (1986) 239–243

2. Dahl, H. M., Wake, S., Cotton, R. G. H. and Danks, D. M. The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.J. Med. Genet. 25 (1988) 25–28

3. Dhont, J. L. Tetrahydrobiopterin deficiencies: Preliminary analysis from an international survey.J. Pediatr. 104 (1984) 501–508

4. Endres, W., Ibel, H., Ierat, L., Blain, N. and Curtius, H. Tetrahydrobiopterin and ‘non-responsive’ dihydropteridine reductase deficiency.Lancet 2 (1987) 223

5. Firgaira, F. A., Cotton, R. G. H. and Danks, D. M. Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells.Lancet 1 (1980) 160

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3. Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome;Neurology;2003-09-08

4. Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia;Journal of Intellectual Disability Research;1997-06

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