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PUBMED FOR HANDHELDS

Journal Abstract Search


152 related items for PubMed ID: 31703126

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  • 71. Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
    Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V.
    Mol Genet Metab; 2020; 131(1-2):155-162. PubMed ID: 32651154
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  • 78. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
    Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Correra A, Pignero A, Castaldo G, Salvatore F.
    Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
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