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Titolo Data di pubblicazione Autore(i) File
Cellular and humoral factors involvement in the enhanced NBT reduction by neutrophil leucocytes of newborn infants. 1977 TOVO PA; PONZONE A
NBT test in thalassemia. 1977 TOVO PA; MINIERO R; PONZONE A
Bethanechol versus antiacids in the treatment of gastroesophageal reflux. 1985 Levi P; Marmo F; Saluzzo C; Dell'Olio D; Ansaldi N; Giuliani L; Guardamagna O; Mostert M; Ponzone A.
Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype. 1990 Ponzone A; Blau N; Guardamagna O; Ferrero GB; Dianzani I; Endres W.
Tetrahydrobiopterin loading test in hyperphenylalaninemia. 1991 Ponzone A; Guardamagna O; Ferraris S; Ferrero GB; Dianzani I; Cotton RG.
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment. 1993 Ponzone A; Guardamagna O; Dianzani I; Ponzone R; Ferrero GB; Spada M; Cotton RG.
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation. 1993 Dianzani I; Camaschella C; Saglio G; Ferrero GB; Ramus S; Ponzone A; Cotton RG.
Genetic history of phenylketonuria mutations in Italy. 1994 Dianzani I; Giannattasio S; de Sanctis L; Marra E; Ponzone A; Camaschella C; Piazza A.
Early versus late screening for phenylketonuria: a metabolic study. 1996 Ferraris S; Spada M; De Sanctis L; Ferrero GB; Pagliardini S; Dotti G; Silvestro L; Ponzone A
Derangement of pyruvate dehydrogenase activity in circulating lymphocytes of a newborn with fetal alcohol syndrome. 1996 Ferraris S; Mostert M; Rabbone I; Cerutti F; Borgione S; Curto M; Mioletti S; Ponzone A; Silvestro L; Rinaudo MT.
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. 1996 Spada M; Ferraris S; Ferrero GB; Sartore M; Lanza C; Perfetto F; de Sanctis L; Dompé C; Blau N; Ponzone A.
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 1998 Dianzani I; de Sanctis L; Smooker PM; Gough TJ; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang HP; Yang N; Ponzone A; Armarego WL; Cotton RG.
Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, Italy 1999 I. DIANZANI; U. LANDEGREN; C. CAMASCHELLA; A. PONZONE; A. PIAZZA; R.G.H. COTTON
Newborn feeding and screening for phenylketonuria. 1999 Ponzone A; Spada M; Ferrero GB; Ponzone R; Ferraris S.
Genotype-phenotype correlation in dihydropteridine reductase deficiency. 2000 de Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Biasucci G; Meli C; Zammarchi E; Coskun T; Blau N; Ponzone A; Dianzani I.
Cystinuria phenotyping by oral lysine and arginine loading. 2001 de Sanctis L; Bonetti G; Bruno M; De Luca F; Bisceglia L; Palacin M; Dianzani I; Ponzone A.
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. 2002 Dello Strologo L; Pras E; Pontesilli C; Beccia E; Ricci-Barbini V; de Sanctis L; Ponzone A; Gallucci M; Bisceglia L; Zelante L; Jimenez-Vidal M; Font M; Zorzano A; Rousaud F; Nunes V; Gasparini P; Palacín M; Rizzoni G.
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. 2004 PEDUTO A; SPADA M; ALLUTO A; LA DOLCETTA M; A. PONZONE; SANTER R
Dihydropteridine reductase deficiency in man: from biology to treatment. 2004 Ponzone A; Spada M; Ferraris S; Dianzani I; de Sanctis L.
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 2006 PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE
Mostrati risultati da 1 a 20 di 33
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