PONZONE, Alberto

PONZONE, Alberto  

Dip. SCIENZE PEDIATRICHE E DELL'ADOLESCENZA (attivo dal 01/01/1900 al 30/04/2013)  

Mostra records
Risultati 1 - 20 di 30 (tempo di esecuzione: 0.042 secondi).
Titolo Data di pubblicazione Autore(i) File
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 2006 PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE
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
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.
Breastfeeding effects on newborn screening. 2010 Porta F; Mussa A; Ponzone A.
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.
Cellular and humoral factors involvement in the enhanced NBT reduction by neutrophil leucocytes of newborn infants. 1977 TOVO PA; 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.
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.
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.
Dihydropteridine reductase deficiency in man: from biology to treatment. 2004 Ponzone A; Spada M; Ferraris S; Dianzani I; de Sanctis L.
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.
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
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
Genealogy of breastfeeding 2016 Porta, Francesco; Mussa, Alessandro; Baldassarre, Giuseppina; Perduca, Vittorio; Farina, Daniele; Spada, Marco; Ponzone, Alberto
Genetic history of phenylketonuria mutations in Italy. 1994 Dianzani I; Giannattasio S; de Sanctis L; Marra E; Ponzone A; Camaschella C; Piazza A.
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.
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.
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.
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency 2016 Porta, Francesco; Ponzone, Alberto; Spada, Marco
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.