Partial dihydropteridine reductase deficiency and mental retardation-Reference-Cited by-同舟云学术

Partial dihydropteridine reductase deficiency and mental retardation

Published:1986-06 Issue:S2 Volume:9 Page:247-249
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Sahota A.,Leeming R. J.,Blair J. A.,Armstrong R. A.,Green A.,Cohen B. E.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01799719

Reference3 articles.

1. Grobe, K., Bartholome, K., Milstien, S. and Kaufman, S. Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.Eur. J. Pediatr. 129 (1978) 93–98

2. Nakabayashi, H., Owada, M., Yoshida, Y., Sakiyama, T. and Kitagawa, T. Clinical and biochemical study of mild dihydropteridine reductase deficiency (abstract).22nd Annual SSIEM Symposium (1984), Newcastle, UK

3. Sahota, A., Blair, J. A., Barford, P. A., Leeming, R. J., Green, A. and Pollitt, R. J. Neonatal screening for dihydropteridine reductase deficiency.J. Inher. Metab. Dis. 8 Suppl. 2 (1985) 99–100

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2. Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation;American Journal of Medical Genetics;1995-07

3. Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation Detection;Pediatric Research;1992-12

4. Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-Years experience;Journal of Inherited Metabolic Disease;1991-03

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