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Results: 1-10 |
Results: 10
Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation
Authors: Ferrari, MC Parini, R Di Rocco, M Radetti, G Beck-Peccoz, P Persani, L
Citation: Mc. Ferrari et al., Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation, EUR J ENDOC, 144(4), 2001, pp. 409-416
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
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1biallelic expression
Authors: Russo, S Bedeschi, MF Cogliati, F Natacci, F Gianotti, A Parini, R Selicorni, A Larizza, L
Citation: S. Russo et al., Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1biallelic expression, CLIN DYSMOR, 9(3), 2000, pp. 157-162
Carbohydrate-deficient glycoprotein syndromes: The Italian experience
Authors: Di Rocco, M Barone, R Adami, A Burlina, A Carrozzi, M Dionisi-Vici, C Gatti, R Iannetti, P Parini, R Raucci, U Roccella, M Spada, M Fiumara, A
Citation: M. Di Rocco et al., Carbohydrate-deficient glycoprotein syndromes: The Italian experience, J INH MET D, 23(4), 2000, pp. 391-395
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
Authors: Sperandeo, MP Bassi, MT Riboni, M Parenti, G Buoninconti, A Manzoni, M Incerti, B Larocca, MR Di Rocco, M Strisciuglio, P Dianzani, I Parini, R Candito, M Endo, F Ballabio, A Andria, G Sebastio, G Borsani, G
Citation: Mp. Sperandeo et al., Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance, AM J HU GEN, 66(1), 2000, pp. 92-99
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: Insights on treatment
Authors: Parini, R Invernizzi, F Menni, F Garavaglia, B Melotti, D Rimoldi, M Salera, S Tosetto, C Taroni, F
Citation: R. Parini et al., Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: Insights on treatment, J INH MET D, 22(6), 1999, pp. 733-739
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
Authors: Galli, L Orrico, A Marcolongo, P Fulceri, R Burchell, A Melis, D Parini, R Gatti, R Lam, CW Benedetti, A Sorrentino, V
Citation: L. Galli et al., Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c, FEBS LETTER, 459(2), 1999, pp. 255-258
Acute, severe cardiomyopathy as main symptom of late-onset very long-chainacyl-coenzyme A dehydrogenase deficiency
Authors: Parini, R Menni, F Garavaglia, B Fesslova, V Melotti, D Massone, ML Lamantea, E Rimoldi, M Vizziello, P Gatti, R
Citation: R. Parini et al., Acute, severe cardiomyopathy as main symptom of late-onset very long-chainacyl-coenzyme A dehydrogenase deficiency, EUR J PED, 157(12), 1998, pp. 992-995
Hyperinsulinism plus hyperammonemia
Authors: Parini, R Colombo, F Lombardi, AM Omati, S Menni, F Beccaria, L
Citation: R. Parini et al., Hyperinsulinism plus hyperammonemia, J PEDIAT, 133(6), 1998, pp. 800-801
Risultati: 1-10 |