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Titolo Data di pubblicazione Autore(i) File
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 1-gen-2000 Becccari, T; Mancuso, F; Costanzi, E; Tassi, C; Barone, RITA MARIA ELISA; Fiumara, Agata; Orlacchio, A; Aisa, Mc; Orlacchio, A.
Extraordinary bone involvement in a Gaucher disease type I patient 1-gen-2000 Barone, RITA MARIA ELISA; Pavone, Vito; Nigro, F; Chabas, A; Fiumara, Agata
Skeletal status assessment in patients with Gaucher disease type I 1-gen-2001 Barone, RITA MARIA ELISA; Pavone, Vito; Pennisi, P; Fiore, Ce file da validare
Plasma chitotriosidase activity is a marker of recovery in transplanted patients affected by beta-thalassemia major 1-gen-2001 Maccarone, C; Pizzarelli, G; Barone, RITA MARIA ELISA; Musumeci, S. file da validare
Extraneurologic symptoms as presenting signs of Sanfilippo disease 1-gen-2001 Barone, RITA MARIA ELISA; Fiumara, Agata; Villani, Grd; Di Natale, P; Pavone, L.
Plasma chitotriosidase activity in beta-Thalassemia major: a comparative study between Sicilian and Sardinian patients. 1-gen-2001 Barone, RITA MARIA ELISA; G., Bertrand; J., Simporè; Malaguarnera, Mariano; S., Musumeci
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 1-gen-2002 Barone, RITA MARIA ELISA; Pavone, Vito; Pennisi, P; Fiumara, Agata; Fiore, Ce
Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease 1-gen-2002 Fiore, Ce; Barone, RITA MARIA ELISA; Pennisi, P; Pavone, Vito; Riccobene, S.
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 1-gen-2002 Barone, RITA MARIA ELISA; Parano, E; Trifiletti, Rr; Fiumara, Agata; Pavone, P.
Stroke-like phenomena in a series of patients with congenital disorders of glycosilation type Ia 1-gen-2003 Barone, RITA MARIA ELISA; Fiumara, Agata; Pavone, L. file da validare
Neurocognitive assessment in patients with Rett syndrome: evidence of spared receptive skills 1-gen-2003 Fiumara, Agata; Belfiore, T; Asta, F; Baieli, S; Barone, RITA MARIA ELISA file da validare
Genotype-phenotype correlation in Italian CDG patients 1-gen-2003 Barone, RITA MARIA ELISA; DI ROCCO, M; Dionisivici, C; Carrozzi, M; Spada, M; Pagliardini, S; Parini, R; Lilliu, F; Iannetti, P; Roccella, M; Deodato, F; Elia, M; Annesi, G; Quattrone, A; Jaeken, J; Fiumara, Agata; Pavone, L; Schollen, E; Matthijs, G. file da validare
Walker-Warburg syndrome with prolonged survival due to O-glycosilation defect. University of Catania 1-gen-2003 Fiumara, Agata; Falsaperla, R; Barone, RITA MARIA ELISA file da validare
Stroke-like phenomena in a series of patients with congenital disorders of Glycosylation type IA 1-gen-2003 Barone, RITA MARIA ELISA; Fiumara, Agata; L., Pavone file da validare
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 1-gen-2003 Fiumara, Agata; DI ROCCO, M; Barone, RITA MARIA ELISA; Baieli, S; Sorge, G; Pavone, L. file da validare
Plasma chitotriosidase activity in patients with β-thalassemia [3] 1-gen-2003 Barone, R.; Malaguarnera, L.; Angius, A.; Musumeci, S. file da validare
Metabolic malformation syndromes. Beyond the Zellweger syndrome 1-gen-2003 Barone, RITA MARIA ELISA; Fiumara, Agata; Pavone, P; Sorge, G; Pavone, L. file da validare
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.
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.
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.
Mostrati risultati da 41 a 60 di 281
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