Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2012_202
Reference12 articles.
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2. Blau N, Barnes I, Dhondt JL (1996) International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 19:8–14
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4. Dahl HH, Hutchison W, McAdam W, Wake S, Morgan FJ, Cotton RG (1987) Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency. Nucleic Acids Res 15:1921–1932
5. Dianzani I, de Sanctis L, Smooker PM et al (1998) Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Hum Mutat 12:267–273
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