Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE.
Farrugia R, et al.
Mol Genet Metab. 2007 Mar;90(3):277-83. doi: 10.1016/j.ymgme.2006.10.013. Epub 2006 Dec 22.
Mol Genet Metab. 2007.
PMID: 17188538
Blau, Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia, Am. J. Hum. Genet. 69 (2001) 269-277; B.R.G. Neville, R. Parascandalo, S. Attard Montalto, R. …
Blau, Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without …