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Titolo Data di pubblicazione Autore(i) File
Mutation analysis and X-inactivation studies in the galactosidase A gene 2002 Morrone A.; Cavicchi C.;
Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. 2003 FUNGHINI S; DONATI MA; PASQUINI E; ZAMMARCHI E; A. MORRONE
Congenital sialidosis - from hydrops fetalis to hydrocephalus 2003 Donati M.A.; Caciotti A.; Bardelli T.; Dani C.; D'Azzo A.; Morrone A.; Zammarchi E.
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. 2003 CACIOTTI A; BARDELLI T; CUNNINGHAM J; D'AZZO A; E. ZAMMARCHI; MORRONE A
THE DE NOVO Q167K MUTATION IN THE POU1F1 GENE LEADS TO COMBINED PITUITARY HORMONE DEFICIENCY IN AN ITALIAN PATIENT. 2003 MALVAGIA S; G. POGGI; PASQUINI E.; DONATI M.A.; PELA I; MORRONE A; ZAMMARCHI E
Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis. 2003 CACIOTTI A; A. MORRONE; DOMENICI R; DONATI M.A.; ZAMMARCHI E
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. 2003 la Marca G; Malvagia S; Donati MA; Morrone A; Pasquini E; Zammarchi E
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers 2003 A. MORRONE; C. CAVICCHI; T. BARDELLI; D. ANTUZZI; R. PARINI; M. DI ROCCO; S. FERIOZZI; O. GABRIELLI; R. BARONE; G. PISTONE; C. SPISNI; R. RICCI; E. ZAMMARCHI
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. 2004 GEORGIOU T; DROUSIOTOU A; CAMPOS Y; CACIOTTI A; SZTRIHA L; GURURAJ A; OZAND P; E. ZAMMARCHI; MORRONE A; D'AZZO A
Fabry disease in Italy: first epidemiologic and collaborative study 2004 Ricci R; Castorina M; Di Lillo M; Antuzzi D; Frustaci A; Parini R; Menni F; Furlan F; Burlina A; Burlina A; Catuogno S; Gabrielli O; Burattini I; Borsini W; Buchner S; Ferriozzi S; Spisni C; De Vito R; Di Rocco M; Aricò M; Pistone G; Bongiorno AM; Morrone A; Cavicchi C; Zammarchi E.
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. 2004 S. MALVAGIA; A. MORRONE; A. CACIOTTI; T. BARDELLI; A. DAZZO; G. ANCORA; E. ZAMMARCHI; M. A. DONATI
Primary and secondary elastin binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. 2005 A CACIOTTI; M A DONATI; T BARDELLI; A DAZZO; G MASSAI; L LUCIANI; E ZAMMARCHI; A. MORRONE
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 2005 Cavicchi C; Donati MA; Pasquini E; Poggi GM; Dionisi-Vici C; Parini R; Zammarchi E; Morrone A.
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. 2005 Malvagia S; Morrone A; Pasquini E; Funghini S; la Marca G; Zammarchi E; Donati MA.
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. 2005 Funghini S; Morrone A; Pasquini E; Zammarchi E; Donati MA.
Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. 2005 S. FUNGHINI; M. DONATI; A. MORRONE; E. PASQUINI; E. ZAMMARCHI
Role of beta-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal complexes of GM1- gangliosidosis patients 2005 A. CACIOTTI; M.A.DONATI; A.BONEH; A.DAZZO; A.FEDERICO; R.PARINI; D.ANTUZZI; T.BARDELLI; D.NOSI; V.KIMONIS; E.ZAMMARCHI; A. MORRONE
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile. 2005 Drousiotou A; Georgiou T; Drousiotou A; Campos Y; Caciotti A; Sztriha L; Gururaj A; Ozand P; Zammarchi E; Morrone A; d Azzo A.
The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. 2005 GEORGIOU T; STYLIANIDOU G; ANASTASIADOU V; CACIOTTI A; CAMPOS Y; ZAMMARCHI E; A. MORRONE; D'AZZO A; DROUSIOTOU A
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. 2005 A. Caciotti;M. A. Donati;A. Boneh;A. d'Azzo;A. Federico;R. Parini;D. Antuzzi;T. Bardelli;D. Nosi;V. Kimonis;E. Zammarchi;A. Morrone
Mostrati risultati da 21 a 40 di 155
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