Author:
Neville B. G. R.,Parascandalo R.,Farrugia R.,Felice A.
Publisher
Oxford University Press (OUP)
Reference13 articles.
1. Blau N, Barnes I, Dhondt JL. International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis1996; 19: 8–14.
2. Blau N, Thöny B, Cotton RGH, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill; 2001. p. 1725–76.
3. Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet2001; 69: 269–77.
4. Farrugia R, Scern CA, Montalto SA, Parascandalo R, Neville BGR, Felice A. Molecular pathology of tetrahydrobiopterin (BH4) deficiancy in the Maltese population 2005 In preparation.
5. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Gen1994; 8: 236–42.
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