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Results: 1-16 |
Results: 16
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene
Authors: Funghini, S Pasquini, E Cappellini, M Donati, MA Morrone, A Fonda, C Zammarchi, E
Citation: S. Funghini et al., 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene, MOL GEN MET, 73(3), 2001, pp. 268-275
Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems
Authors: Leuzzi, R Fulceri, R Marcolongo, P Banhegyi, G Zammarchi, E Stafford, K Burchell, A Benedetti, A
Citation: R. Leuzzi et al., Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems, BIOCHEM J, 357, 2001, pp. 557-562
Early-onset combined methylmalonic aciduria and homocystinuria: Neuroradiologic findings
Authors: Rossi, A Cerone, R Biancheri, R Gatti, R Schiaffino, MC Fonda, C Zammarchi, E Tortori-Donati, P
Citation: A. Rossi et al., Early-onset combined methylmalonic aciduria and homocystinuria: Neuroradiologic findings, AM J NEUROR, 22(3), 2001, pp. 554-563
Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria
Authors: Pela, I Donati, MA Zammarchi, E
Citation: I. Pela et al., Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria, J INH MET D, 24(6), 2001, pp. 681-682
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement
Authors: Morrone, A Bardelli, T Donati, MA Giorgi, M Di Rocco, M Gatti, R Parini, R Ricci, R Taddeucci, G D'Azzo, A Zammarchi, E
Citation: A. Morrone et al., beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement, HUM MUTAT, 15(4), 2000, pp. 354-366
Novel mutations in lysosomal neuraminidase identify functional domains anddetermine clinical severity in sialidosis
Authors: Bonten, EJ Arts, WF Beck, M Covanis, A Donati, MA Parini, R Zammarchi, E d'Azzo, A
Citation: Ej. Bonten et al., Novel mutations in lysosomal neuraminidase identify functional domains anddetermine clinical severity in sialidosis, HUM MOL GEN, 9(18), 2000, pp. 2715-2725
Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency
Authors: Ciani, F Poggi, GM Pasquin, E Donati, MA Zammarchi, E
Citation: F. Ciani et al., Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency, CLIN NUTR, 19(2), 2000, pp. 137-139
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion
Authors: Poggi, GM Lamantea, E Ciani, F Donati, MA Carrara, F Bartalena, L Garavaglia, B Zammarchi, E
Citation: Gm. Poggi et al., Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion, J INH MET D, 23(7), 2000, pp. 755-757
Genotype-phenotype correlation in dihydropteridine reductase deficiency
Authors: 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
Citation: L. De Sanctis et al., Genotype-phenotype correlation in dihydropteridine reductase deficiency, J INH MET D, 23(4), 2000, pp. 333-337
Lethal late onset cblB methylmalonic aciduria
Authors: Ciani, F Donati, MA Tulli, G Poggi, GM Pasquini, E Rosenblatt, DS Zammarchi, E
Citation: F. Ciani et al., Lethal late onset cblB methylmalonic aciduria, CRIT CARE M, 28(6), 2000, pp. 2119-2121
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene
Authors: Porfirio, B Chiarelli, I Graziano, C Mannoni, A Morrone, A Zammarchi, E De Bernabe, DBV De Cordoba, SR
Citation: B. Porfirio et al., Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene, J MED GENET, 37(4), 2000, pp. 309-312
Role for p300 in Pax 8 induction of thyroperoxidase gene expression
Authors: De Leo, R Miccadei, S Zammarchi, E Civitareale, D
Citation: R. De Leo et al., Role for p300 in Pax 8 induction of thyroperoxidase gene expression, J BIOL CHEM, 275(44), 2000, pp. 34100-34105
Low-dose folic acid supplementation reduces plasma levels of the cardiovascular risk factor homocysteine in postmenopausal women
Authors: De Leo, V la Marca, A Morgante, G Ciani, F Zammarchi, E Setacci, C
Citation: V. De Leo et al., Low-dose folic acid supplementation reduces plasma levels of the cardiovascular risk factor homocysteine in postmenopausal women, AM J OBST G, 183(4), 2000, pp. 945-947
Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?
Authors: Bettinelli, A Rusconi, R Ciarmatori, S Righini, V Zammarchi, E Donati, MA Isimbaldi, C Bevilacqua, M Cesareo, L Tedeschi, S Garavaglia, R Casari, G
Citation: A. Bettinelli et al., Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?, PEDIAT RES, 46(2), 1999, pp. 232-238
Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes
Authors: Micheli, V Sestini, S Rocchigiani, M Jacomelli, G Manzoni, F Peruzzi, L Gathof, BS Zammarchi, E Pompucci, G
Citation: V. Micheli et al., Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes, LIFE SCI, 64(26), 1999, pp. 2479-2487
Screening and diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency
Authors: Balsamo, A Baserga, M Burroni, M Cacciari, E Cardillo, A Cassio, A Cerone, R Ciatti, R Cioni, M Cotugno, G Forgione, F Impellizzeri, A Lelli, A Lilliu, F Meli, C Pagliardini, S Palillo, L Parlato, G Piazzi, S Pugliese, G Romano, C Salardi, S Torelli, G Zammarchi, E
Citation: A. Balsamo et al., Screening and diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, RIV ITAL P, 24(5), 1998, pp. 861-869
Risultati: 1-16 |