FIUMARA, Agata

FIUMARA, Agata  

MEDICINA CLINICA E SPERIMENTALE  

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Titolo Data di pubblicazione Autore(i) File
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 1-gen-1994 Parano, E; Fiumara, Agata; Falsaperla, R; Pavone, L.
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region 1-gen-2007 Lissens, W; Arena, A; Seneca, S; Rafi, M; Sorge, G; Liebaers, I; Wenger, D; Fiumara, Agata
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene. Mol Genet Metab. 2006 Jun;88(2):192-5. Epub 2006 Apr 4. IF 2.678 1-gen-2006 Teresa, E; Lonardo, F; Fiumara, Agata; Lombardi, C; Russo, P; Zuppi, C; Scarano, G; Musumeci, S; Gianfrancesco, F.
Accurate molecular diagnosis of gaucher disease using clinical exome sequencing as a first-tier test 1-gen-2021 Zampieri, S.; Cattarossi, S.; Pavan, E.; Barbato, A.; Fiumara, A.; Peruzzo, P.; Scarpa, M.; Ciana, G.; Dardis, A.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 1-gen-2021 Wilson, Matthew P; Garanto, Alejandro; Pinto E Vairo F, Filippo; Ng, Bobby G; Ranatunga, Wasantha K; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupré, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Sue; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodríguez-Palmero, Agustí; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C H; Jaeken, Jaak; Freeze, Hudson H; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 1-gen-2019 Cantone, M.; Lanza, G.; Le Pira, A.; Barone, R.; Pennisi, G.; Bella, R.; Pennisi, M.; Fiumara, A.
Adrenoleukodystrophy. Validity of CT in the diagnosis. 1-gen-1982 Pavone, L; Pero, G; Fiumara, Agata; La Rosa, M; Scialfa, G.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 1-gen-2016 Ng, B. G; Shiryaev, S. A; Rymen, D; Eklund, E. A; Raymond, K; Kircher, M; Abdenur, J. E; Alehan, F; Midro, A. T; Bamshad, M. J; Barone, R; Berry, G. T.; Brumbaugh, J. E; Buckingham, K. J; Clarkson, K; Cole, F. S; O'Connor, S; Cooper, G. M; Van Coster, R; Demmer, L. A; Diogo, L; Fay, A. J; Ficicioglu, C; Fiumara, A; Gahl, W. A; Ganetzky, R; Goel, H; Harshman, L. A; He, M; Jaeken, J; James, P. M; Katz, D; Keldermans, L; Kibaek, M; Kornberg, A. J; Lachlan, K; Lam, C; Yaplito-Lee, J; Nickerson, D. A; Peters, H. L; Race, V; Régal, L; Rush, J. S; Rutledge, S. L; Shendure, J; Souche, E; Sparks, S. E; Trapane, P; Sanchez-Valle, A; Vilain, E; Vøllo, A; Waechter, C. J; Wang, R. Y; Wolfe, L. A; Wong, D. A; Wood, T; Yang, A. C; Matthijs, G; Freeze, H. H.
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 1-gen-2019 Sturiale, Luisa; Bianca, Sebastiano; Garozzo, Domenico; Terracciano, Alessandra; Agolini, Emanuele; Messina, Angela; Palmigiano, Angelo; Esposito, Francesca; Barone, Chiara; Novelli, Antonio; Fiumara, Agata; Jaeken, Jaak; Barone, Rita
Alterazioni cerebellari nelle malattie metaboliche. 1-gen-2013 Fiumara, Agata; del Campo, G; Trigilia, C; Barone, RITA MARIA ELISA; Sorge, G.
alterazioni dei neurotrasmettitori 1-gen-2006 Marzullo, E; Fiumara, Agata
Anomalie cerebellari nelle malattie metaboliche 1-gen-2003 Fiumara, Agata
Anomalie ematologiche come indizio di malattia metabolica 1-gen-2006 Fiumara, Agata
Anti-MOG Antibody Syndrome and Cerebral Sinovenous Thrombosis: A Cause-Effect Hypothesis 1-gen-2021 Fontana, A.; Greco, F.; Smilari, P.; Pratico, A. D.; Fiumara, A.; Ruggieri, M.; Pavone, P.
ANTI-MOG ASSOCIATED ENCEPHALITIS: WHEN STEROID THERAPY IS NOT ENOUGH 1-gen-2022 Arrabito, M.; Pratico, A. D.; Smilari, P.; Greco, F.; Oliva, C. F.; Ruggieri, M.; Pavone, P.; Fiumara, A.
APPROCCIO CRITICO AL NEONATO CON SOSPETTA MALATTIA METABOLICA ACUTA. Patologie metaboliche ad esordio neonatale 1-gen-2005 Fiumara, Agata
Approccio critico al neonato con sospetta patologia metabolica acuta 1-gen-2003 Fiumara, Agata
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 1-gen-1998 Fiumara, Agata; R. A., Wevers; Barone, RITA MARIA ELISA; L., Lagae; B., Stoltenborg; J., Jaeken
Aromatic L-aminoacid decarboxylase deficiency with hyperdopaminuria: Clinical and laboratory findings in response to different therapies 1-gen-2002 Fiumara, Agata; Brautigam, C; Hyland, K; Sharma, R; Lagae, L; Stoltenborg, B; Hoffmann, Gf; Jaeken, J; Wevers, R.
Arterial ischemic stroke (AIS) in childhood: clinical report from a single control center 1-gen-2019 Portale, Anna; Fiumara, Agata; Scalora, Luisa; Greco, Filippo; Smilari, Pierluigi; Venti, Valeria; Pustorino, Elena; Pavone, Piero