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Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria.
J Inherit Metab Dis. 2000 Sep;23(6):563-70. doi: 10.1023/a:1005621727560.
J Inherit Metab Dis. 2000.
PMID: 11032331
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N.
Leuzzi V, et al. Among authors: carducci cl.
Clin Genet. 2010 Mar;77(3):249-57. doi: 10.1111/j.1399-0004.2009.01306.x. Epub 2009 Jan 3.
Clin Genet. 2010.
PMID: 20059486
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Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.
Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I.
Leuzzi V, et al. Among authors: carducci c.
Neurology. 2002 Oct 22;59(8):1241-3. doi: 10.1212/wnl.59.8.1241.
Neurology. 2002.
PMID: 12391354
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Executive function impairment in early-treated PKU subjects with normal mental development.
Leuzzi V, Pansini M, Sechi E, Chiarotti F, Carducci C, Levi G, Antonozzi I.
Leuzzi V, et al. Among authors: carducci c.
J Inherit Metab Dis. 2004;27(2):115-25. doi: 10.1023/B:BOLI.0000028781.94251.1f.
J Inherit Metab Dis. 2004.
PMID: 15159642
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