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. Among authors: felice ae.
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
Parascandalo, S. Attard Montalto, R. Farrugia, A.E. Felice, A congenital dopa responsive motor disorder: a Maltese variant due to sepiapterin reductase deficiency, Brain 128 (Pt10) (2005) 2291-2296.] has also been identified at high frequency (4.6%) in …
Parascandalo, S. Attard Montalto, R. Farrugia, A.E. Felice, A congenital dopa responsive motor disorder: a Malte …