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Mostrati risultati da 61 a 80 di 281
Titolo Data di pubblicazione Autore(i) File
A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions 1-gen-2003 Malaguarnera, Lucia; Simpore, J; Prodi, Da; Angius, A; Sassu, A; Persico, I; Barone, RITA MARIA ELISA; Musumeci, S.
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 1-gen-2003 Fiumara, Agata; VAN KUILEBURG, Abp; Caruso, U; Nucifora, C; Marzullo, E; Barone, RITA MARIA ELISA; Meli, C; VAN GENNIP, H.
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 1-gen-2003 Morrone, A; Cavicchi, C; Bardelli, T; Antuzzi, D; Parini, R; Di Rocco, M; Feriozzi, S; Gabrielli, O; Barone, RITA MARIA ELISA; Pistone, G; Spisni, C; Ricci, R; Zammarchi, E.
Mutation analysis of the MeCP2 gene in patients with Rett syndrome 1-gen-2003 Conforti, Fl; Mazzei, R; Magariello, A; Patitucci, A; Gabriele, Al; Muglia, M; Quattrone, A; Fiumara, Agata; Barone, RITA MARIA ELISA; Pavone, L; Nistico, R; Mangone, L.
Increased fucosylation and branching of serum transferrin N-glycans in long-term untreated galactosemic patients 1-gen-2004 L., Sturiale; Barone, RITA MARIA ELISA; G., Sorge; M., Zaffanello; Fiumara, Agata; G., Impallomeni; D., Garozzo file da validare
Significantly high recurrence of late onset Krabbe’s leukodystrophy in Sicily: natural hystory 1-gen-2004 Fiumara, Agata; Bertagnolio, B; Barone, RITA MARIA ELISA; Meli, C; Pavone, P; Sorge, G. file da validare
Coarse face and visceromegaly are not always due to mucopolysaccharidosis. Ital J Pediatr 2004, 30: 195-197 1-gen-2004 Fiumara, Agata; Nucifora, C; Barone, RITA MARIA ELISA; Sorge, G. file da validare
Increased fucosylation and branching of serum tranferrin N-glycans in long-term untreated galactosemic patients. RID D-4559-2009 1-gen-2004 Sturiale, L; Barone, RITA MARIA ELISA; Sorge, G; Zaffanello, M; Fiumara, Agata; Impallomeni, G; Garozzo, Domenico file da validare
Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function 1-gen-2004 Esposito, G; Vitagliano, L; Costanzo, P; Borrelli, L; Barone, RITA MARIA ELISA; Pavone, L; Izzo, P; Zagari, A; Salvatore, F. file da validare
Startle epilepsy complicating aspartylglucosaminuria 1-gen-2004 Labate, A; Barone, R; Gambardella, A; Civitelli, D; Fiumara, A; Annesi, G; Zappia, M; Pavone, L; Quattrone, Antonio
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 1-gen-2004 Annesi, G; Sofia, Vito; Gambardella, A; Candiano, Ic; Spadafora, P; Annesi, F; Cutuli, N; DE MARCO, Ev; Civitelli, D; Carrideo, S; Tarantino, P; Barone, RITA MARIA ELISA; Zappia, Mario; Quattrone, A.
Globoid cells leukodystrophy: natural history and genetic aspects in 23 patients from Eastern Sicily 1-gen-2005 Fiumara, Agata; Barone, RITA MARIA ELISA; Meli, C; Arena, A; Sorge, G; Lissens, W. file da validare
Synchronic Macrophage response and Plasmodium Falciparum Malaria 1-gen-2005 Musumeci, M; Simpore, J; Barone, RITA MARIA ELISA; Angius, A; Malaguarnera, Lucia
Callosal agenesis and interhemispheric cyst: expandign the phenotype 1-gen-2005 Pavone, P; Barone, R; Baieli, S; Manfrè, L; Incorpora, Concetta Gemma; Ruggieri, M
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 1-gen-2005 Sturiale, L.; Barone, R.; Fiumara, A.; Perez, M.; Zaffanello, M.; Sorge, G.; Pavone, L.; Jaeken, J.; Garozzo, D.; Tortorelli, S.; O'Brien, J. F.
Mass spectrometric strategies for the N-glycosylation analisys of serum glycoproteins in patients with congenital disorders of glycosylation (CDG) and galactosemia 1-gen-2005 L., Sturiale; Barone, RITA MARIA ELISA; M., Perez; G., Sorge; J., Jaeken; Garozzo, Domenico file da validare
Multiple sclerosis and chitotriosidase: a novel association 1-gen-2005 Sotgiu, S; Arru, G; Fois, Ml; Barone, RITA MARIA ELISA file da validare
Chitotriosidase in patients with acute ischemic stroke 1-gen-2005 Sotgiu, S; Barone, RITA MARIA ELISA; Zanda, B; Arru, G; Fois, Ml; Arru, A; Rosati, G; Marchetti, Bianca Maria; Musumeci, S. file da validare
Chitotriosidase activity in colostrum from African and Caucasian women 1-gen-2005 Musumeci, M; Malaguarnera, Lucia; Simpore, J; Barone, RITA MARIA ELISA; Whalen, M; Musumeci, S. file da validare
Advances in purification methods of serum glycoproteins for MALDI_MS analysis of N-Glycome in patients with glycosylation disorders. 1-gen-2005 L., Sturiale; Barone, RITA MARIA ELISA; D., Garozzo file da validare
Mostrati risultati da 61 a 80 di 281
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