Sfoglia per Autore
Fumarate hydratase deficiency.
1998-01-01 Bonioli, Eugenio; Nulla, nullDi Stefano; Peri, V.; Caruso, U.; Cerone, Roberto; Lamantea, E.; Taroni, F.; Bellini, C.
Determination of plasma homocysteine by high performance liquid chromatography
1998-01-01 Minniti, G; Piana, Antonietta; Armani, U; Cerone, Roberto
Eight new mutations of phenylalanine hydroxilase gene in italian patients with hyperphenylalaninemia
1998-01-01 Bosco, P; Cali'F, ; Meli, C; Mollica, F; Zammarchi, E.; Cerone, Roberto; Vanni, C; Palillo, L; Greco, D; Romano, V.
Phenylketonuria:diet for life or not?
1999-01-01 Cerone, Roberto; Schiaffino, Mc; DI STEFANO, S; Veneselli, EDVIGE MARIA
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism
1999-01-01 Cerone, Roberto; Schiaffino, Mc; Caruso, U; Lupino, S; Gatti, R.
Livelli di omocisteina plasmatica in pazienti affetti da diabete di tipo 1.
1999-01-01 Cotellessa, Mario; Cerone, Roberto; Prigione, V; Ventura, F; Minniti, G; Pulvirenti, G; Lorini, RENATA GIUSEPPINA
15 years of screening for BH4 deficiency in the Ligurian Region, Italy
1999-01-01 Cerone, Roberto; Schiaffino, Mc; Caruso, U; Barella, C; Fantasia, Ar; Blau, N; Lorini, RENATA GIUSEPPINA
Plasma and serum total homocysteine concentrations in paediatric patients, evaluated by high-performance liquid chromatography with fluorescence
2000-01-01 Minniti, G; Cerone, Roberto; Piana, Antonietta; Armani, Ugo; Lorini, RENATA GIUSEPPINA
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
2000-01-01 Ruetschi, U.; Cerone, Roberto; PÉREZ CERDA, C.; Schiaffino, M. C.; Standing, S.; Ugarte, M.; Holme, E.
Genotype-phenotype correlation in dihydropteridine reductase deficiency
2000-01-01 L., DE SANCTIS; C., Alliaudi; M., Spada; R., Farrugia; Cerone, Roberto; G., Biasucci; C., Meli; E., Zammarchi; T., Coskun; N., Blau; A., Ponzone; I., Dianzani
Trattamento degli errori congeniti in gravidanza: il modello Fenilchetonuria.
2000-01-01 Cerone, Roberto; Schiaffino, Mc; Cerboni, M; Guerriero, F; Lorini, RENATA GIUSEPPINA
Low total plasma homocysteine concentrations in patients with type 1 diabetes
2001-01-01 Cotellessa, Mario; Minniti, G; Cerone, Roberto; Prigione, F; Calevo, Mg; Lorini, RENATA GIUSEPPINA
Mild hyperhomocysteinemia: vitamin supplementation or not?
2001-01-01 Cerone, Roberto; Minniti, G; Piana, Antonietta; Armani, U; Lorini, RENATA GIUSEPPINA
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia
2001-01-01 Mud, Sh; Cerone, Roberto; Schiaffino, Mc; Fantasia, Ar; Minniti, G; Caruso, U; Lorini, RENATA GIUSEPPINA; Watkins, D; Matiaszuk, N; Rosenblatt, Ds; Schwahn, B; Rozen, R; Legros, L; Kotb, M; Capdevila, A; Luka, Z; Finkelstein, Jd; Tangerman, A; Stabler, Sp; Allen, Rh; Wagner, C.
Cobalamin (Cbl)C/D deficiency: clinical, neurophysiological and neuroradiologic finding in 14 cases
2001-01-01 Biancheri, R.; Cerone, Roberto; Schiaffino, Mc; Caruso, U; Veneselli, EDVIGE MARIA; Perrone, Mv; Rossi, A; Gatti, R.
Programmi svolti dalla II Clinica Pediatrica.
2001-01-01 Lorini, RENATA GIUSEPPINA; Bertini, I; Carbone, I; Caruso, U; Cerone, Roberto; Cotellessa, Mario; Fantasia, A; Giannattasio, A; Giannotti, D; Haupt, R; Migliaccio, G; Minicucci, Laura; Minniti, G; Napoli, F; Padovani, P; Palmieri, A; Schiaffino, Mc
Plasma homocysteine concentrations in a school-age population
2001-01-01 Cerone, Roberto; Minniti, G; Piana, A; Armani, U; Gianotti, D; Lorini, RENATA GIUSEPPINA
EARLY-ONSET COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA: NEURORADIOLOGICAL FINDINGS
2001-01-01 Rossi, A; Cerone, Roberto; Biancheri, R; Gatti, R; Schiaffino, Mc; Fonda, C; Zammarchi, E; TORTORI DONATI, P.
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.
2002-01-01 Biancheri, R.; Cerone, Roberto; Rossi, A.; Schiaffino, M. C.; Caruso, U.; Minniti, G.; Perrone, M. V.; TORTORI DONATI, P.; Veneselli, EDVIGE MARIA
Mutations in glycine N-methyltransferase give insight into its role in methionine metabolism
2002-01-01 Luka, Z; Cerone, Roberto; Phillips, Ja; Mudd, Sh; Wagner, C.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Fumarate hydratase deficiency. | 1-gen-1998 | Bonioli, Eugenio; Nulla, nullDi Stefano; Peri, V.; Caruso, U.; Cerone, Roberto; Lamantea, E.; Taroni, F.; Bellini, C. | |
Determination of plasma homocysteine by high performance liquid chromatography | 1-gen-1998 | Minniti, G; Piana, Antonietta; Armani, U; Cerone, Roberto | |
Eight new mutations of phenylalanine hydroxilase gene in italian patients with hyperphenylalaninemia | 1-gen-1998 | Bosco, P; Cali'F, ; Meli, C; Mollica, F; Zammarchi, E.; Cerone, Roberto; Vanni, C; Palillo, L; Greco, D; Romano, V. | |
Phenylketonuria:diet for life or not? | 1-gen-1999 | Cerone, Roberto; Schiaffino, Mc; DI STEFANO, S; Veneselli, EDVIGE MARIA | |
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism | 1-gen-1999 | Cerone, Roberto; Schiaffino, Mc; Caruso, U; Lupino, S; Gatti, R. | |
Livelli di omocisteina plasmatica in pazienti affetti da diabete di tipo 1. | 1-gen-1999 | Cotellessa, Mario; Cerone, Roberto; Prigione, V; Ventura, F; Minniti, G; Pulvirenti, G; Lorini, RENATA GIUSEPPINA | |
15 years of screening for BH4 deficiency in the Ligurian Region, Italy | 1-gen-1999 | Cerone, Roberto; Schiaffino, Mc; Caruso, U; Barella, C; Fantasia, Ar; Blau, N; Lorini, RENATA GIUSEPPINA | |
Plasma and serum total homocysteine concentrations in paediatric patients, evaluated by high-performance liquid chromatography with fluorescence | 1-gen-2000 | Minniti, G; Cerone, Roberto; Piana, Antonietta; Armani, Ugo; Lorini, RENATA GIUSEPPINA | |
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III | 1-gen-2000 | Ruetschi, U.; Cerone, Roberto; PÉREZ CERDA, C.; Schiaffino, M. C.; Standing, S.; Ugarte, M.; Holme, E. | |
Genotype-phenotype correlation in dihydropteridine reductase deficiency | 1-gen-2000 | L., DE SANCTIS; C., Alliaudi; M., Spada; R., Farrugia; Cerone, Roberto; G., Biasucci; C., Meli; E., Zammarchi; T., Coskun; N., Blau; A., Ponzone; I., Dianzani | |
Trattamento degli errori congeniti in gravidanza: il modello Fenilchetonuria. | 1-gen-2000 | Cerone, Roberto; Schiaffino, Mc; Cerboni, M; Guerriero, F; Lorini, RENATA GIUSEPPINA | |
Low total plasma homocysteine concentrations in patients with type 1 diabetes | 1-gen-2001 | Cotellessa, Mario; Minniti, G; Cerone, Roberto; Prigione, F; Calevo, Mg; Lorini, RENATA GIUSEPPINA | |
Mild hyperhomocysteinemia: vitamin supplementation or not? | 1-gen-2001 | Cerone, Roberto; Minniti, G; Piana, Antonietta; Armani, U; Lorini, RENATA GIUSEPPINA | |
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia | 1-gen-2001 | Mud, Sh; Cerone, Roberto; Schiaffino, Mc; Fantasia, Ar; Minniti, G; Caruso, U; Lorini, RENATA GIUSEPPINA; Watkins, D; Matiaszuk, N; Rosenblatt, Ds; Schwahn, B; Rozen, R; Legros, L; Kotb, M; Capdevila, A; Luka, Z; Finkelstein, Jd; Tangerman, A; Stabler, Sp; Allen, Rh; Wagner, C. | |
Cobalamin (Cbl)C/D deficiency: clinical, neurophysiological and neuroradiologic finding in 14 cases | 1-gen-2001 | Biancheri, R.; Cerone, Roberto; Schiaffino, Mc; Caruso, U; Veneselli, EDVIGE MARIA; Perrone, Mv; Rossi, A; Gatti, R. | |
Programmi svolti dalla II Clinica Pediatrica. | 1-gen-2001 | Lorini, RENATA GIUSEPPINA; Bertini, I; Carbone, I; Caruso, U; Cerone, Roberto; Cotellessa, Mario; Fantasia, A; Giannattasio, A; Giannotti, D; Haupt, R; Migliaccio, G; Minicucci, Laura; Minniti, G; Napoli, F; Padovani, P; Palmieri, A; Schiaffino, Mc | |
Plasma homocysteine concentrations in a school-age population | 1-gen-2001 | Cerone, Roberto; Minniti, G; Piana, A; Armani, U; Gianotti, D; Lorini, RENATA GIUSEPPINA | |
EARLY-ONSET COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA: NEURORADIOLOGICAL FINDINGS | 1-gen-2001 | Rossi, A; Cerone, Roberto; Biancheri, R; Gatti, R; Schiaffino, Mc; Fonda, C; Zammarchi, E; TORTORI DONATI, P. | |
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. | 1-gen-2002 | Biancheri, R.; Cerone, Roberto; Rossi, A.; Schiaffino, M. C.; Caruso, U.; Minniti, G.; Perrone, M. V.; TORTORI DONATI, P.; Veneselli, EDVIGE MARIA | |
Mutations in glycine N-methyltransferase give insight into its role in methionine metabolism | 1-gen-2002 | Luka, Z; Cerone, Roberto; Phillips, Ja; Mudd, Sh; Wagner, C. |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile