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Results: 1-10 |
Results: 10
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
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
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
Authors: Nishino, I Spinazzola, A Papadimitriou, A Hammans, S Steiner, I Hahn, CD Connolly, AM Verloes, A Guimaraes, J Maillard, I Hamano, H Donati, MA Semrad, CE Russell, JA Andreu, AL Hadjigeorgiou, GM Vu, TH Tadesse, S Nygaard, TG Nonaka, I Hirano, I Bonilla, E Rowland, LP DiMauro, S Hirano, M
Citation: I. Nishino et al., Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations, ANN NEUROL, 47(6), 2000, pp. 792-800
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
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
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinalmuscular atrophy patients and its relevance for diagnosis
Authors: Patrizi, AL Tiziano, F Zappata, S Donati, MA Neri, G Brahe, C
Citation: Al. Patrizi et al., SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinalmuscular atrophy patients and its relevance for diagnosis, EUR J HUM G, 7(3), 1999, pp. 301-309
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
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