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FIUMARA, Agata

FIUMARA, Agata  

MEDICINA CLINICA E SPERIMENTALE  

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Titolo Data di pubblicazione Autore(i) File
[Early-onset hyperthyroidism with muscle involvement: a report on a patient]. 1-gen-1996 Greco, F; Caruso, M; Falsaperla, R; Fiumara, Agata; Parano, E. file da validare
[Melnick-Needles syndrome. Report of a case]. Pediatr Med Chir. 1998 Mar-Apr;20(2):149-52. Italian. PMID: 9706640 1-gen-1998 Greco, F; Mauceri, L; Finocchiaro, M; Fiumara, Agata; Sorge, G. file da validare
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. file da validare
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 1-gen-2015 Barone, RITA MARIA ELISA; Carrozzi, M; Parini, R; Battini, R; Martinelli, D; Elia, M; Spada, M; Lilliu, F; Ciana, G; Burlina, A; Leuzzi, V; Leoni, M; Sturiale, L; Matthijs, G; Jaeken, J; Di Rocco, M; Garozzo, Domenico; Fiumara, Agata
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 1-gen-2020 Casetta, B.; Malvagia, S.; Funghini, S.; Martinelli, D.; Dionisi-Vici, C.; Barone, R.; Fiumara, A.; Donati, M. A.; Guerrini, R.; La Marca, G.
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 1-gen-2021 Nicotera, A. G.; Spoto, G.; Cali, F.; Romeo, G.; Musumeci, A.; Vinci, M.; Fiumara, A.; Barone, R.; Di Rosa, G.; Musumeci, S. A.
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 1-gen-2009 Sprovieri, T; Conforti, Fl; Fiumara, Agata; Mazzei, R; Ungaro, C; Citrigno, L; Muglia, M; Arena, A; Quattrone, A.
A novel paper-based biosensor for urinary phenylalanine measurement for PKU therapy monitoring 1-gen-2019 Messina, Maria Anna; Raudino, Federica; Fiumara, Agata; Conoci, Sabrina; Petralia, Salvatore file da validare
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.
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 1-gen-2018 Barone, Rita; Alaimo, Salvatore; Messina, Marianna; Pulvirenti, Alfredo; Bastin, Jean; MIMIC-Autism, Group; Ferro, Alfredo; Frye, Richard E; Rizzo, Renata; Russo, Giovanna; Fiumara, Agata
A survey on Italian Patients with PMM2-CDG 1-gen-2013 Barone, RITA MARIA ELISA; Carrozzi, M; Cosentini, D; Dionisi Vici, C; Di Rocco, M; Garozzo, D; Lilliu, F; Spada, M; Sturiale, L; Fiumara, Agata file da validare
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. file da validare
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. file da validare
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. file da validare
alterazioni dei neurotrasmettitori 1-gen-2006 Marzullo, E; Fiumara, Agata file da validare