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ItalianoPONZONE, Alberto
Dettaglio
PONZONE, Alberto
EX-Dip. SCIENZE PEDIATRICHE E DELL'ADOLESCENZA-(1900/2013)
Pubblicazioni
Risultati 1 - 20 di 30 (tempo di esecuzione: 0.001 secondi).
| Titolo | Data di pubblicazione | Autore(i) | |
|---|---|---|---|
| 1 | A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA | 2006 | PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE |
| 2 | 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 |
| 3 | 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. |
| 4 | Breastfeeding effects on newborn screening. | 2010 | Porta F; Mussa A; Ponzone A. |
| 5 | 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. |
| 6 | Cellular and humoral factors involvement in the enhanced NBT reduction by neutrophil leucocytes of newborn infants. | 1977 | TOVO PA; PONZONE A |
| 7 | 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. |
| 8 | 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. |
| 9 | 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. |
| 10 | Dihydropteridine reductase deficiency in man: from biology to treatment. | 2004 | Ponzone A; Spada M; Ferraris S; Dianzani I; de Sanctis L. |
| 11 | 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. |
| 12 | 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 |
| 13 | 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 |
| 14 | Genealogy of breastfeeding | 2016 | Porta, Francesco; Mussa, Alessandro; Baldassarre, Giuseppina; Perduca, Vittorio; Farina, Daniele; Spada, Marco; Ponzone, Alberto |
| 15 | Genetic history of phenylketonuria mutations in Italy. | 1994 | Dianzani I; Giannattasio S; de Sanctis L; Marra E; Ponzone A; Camaschella C; Piazza A. |
| 16 | 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. |
| 17 | High incidence of later-onset fabry disease revealed by newborn screening | 2006 | Spada M; Pagliardini S; Yasuda M; Tukel T; Thiagarajan G; Sakuraba H; Ponzone A; Desnick RJ. |
| 18 | In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31). | 2009 | Ponzone A; Mussa A; Porta F. |
| 19 | Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency | 2016 | Porta, Francesco; Ponzone, Alberto; Spada, Marco |
| 20 | 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. |
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