Molecular epidemiology of phenylalanine hydroxilase deficiency in Southern Italy: a 96% detection rate with ten novel mutations

Autor: A. Correra, Giuseppe Castaldo, Francesco Salvatore, Aurora Daniele, A. Pignero, Giuseppe Cardillo, C. Pennino, M. T. Carbone, D. Scognamiglio

Hyperphenylalaninemia (HPA) comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase (PAH) gene mutations. We investigated PAH mutations in 126 HPA patients from Southern Italy who were identified in a neonatal sc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::731ab1475653aa66f727ea6847974679
http://hdl.handle.net/11588/102258

Epidemiologia molecolare della fenilchetonuria e nuova procedura in D-HPLC per lo studio di macrodelezioni

Autor: DANIELE, Aurora, G. CARDILLO, C. PENNINO, D. SCOGNAMIGLIO, M. T. CARBONE, A. PIGNERO, G. CASTALDO, F. SALVATORE

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3977::08f938d260ae8c457ae28170135529aa
http://hdl.handle.net/11591/209437

The role of antitissue transglutaminase assay for the diagnosis and monitoring of coeliac disease: A French-Italian multicentre study

Autor: Tonutti E., Visentini D., Bizzaro N., Caradonna M., Cerni L., Villalta D., Tozzoli R. F Ferrara, M Barraco, E Migali, D Mariotti, G Danzi, ML Martino, M Danzi, M Baldassarre, G Di Bitonto, M Ciccarelli, D Riello, G Bertiato, G Pedicini, RC Bocchino, F Moccia, G Alessio, P Amboni, C Ottomano, U Volta, A Granito, N Carabellese, R Amato, G Aurnia, C Spagnulo, P Clemen, F Coppola, G Spagnoletti, M Spina, T Trigilia, F Branciforte, L Giancotti, M Apollini, B Malamisura, A Sofia, M Boffardi, F Antico, P Arigliano, G Marcer, E Sala, ML Grassi, G Giana, C Staffa, V Cova, M Martinelli, A Calabrò, D Renzi, D Nigro, D Macchia, M Manfredi, E Cammelli, G Castellucci, L Ferraro, L Marchetti, G Garelli, M Colombo, E Castellano, M Cingolani, A Sabatino, A Di Blasi, M Golato, A Carlucci, G Spagnuolo, G Trivisonno, V Castelli, S Babbini, V Marrè, G Meli, S Amoroso, M Montesanti, E Mei, S Armelloni, C Gerosa, C Marcellino, C Gallo, R Pozzoli, M Peracchi, MT Bardella, C Trovato, VS Arosio, R Malberti, F Rea, MR Di Domenico, A Sergio, P Iardino, V Formicola, G Tamburro, A Massari, M Cirella, E Rondinella, A Pignero, D Scognamiglio, S Spagnuolo, S Orefice, V Romano, B Pennucci, A Maglione, S Lavecchia, A Rubino, O Leone, N Cantieri, F Michelutti, G Guariso, D Basso, S Teresi, E Gucciardino, M Di Gregorio, MA Trippiedi, P Greco, R Guadagna, E Maltese, T Imbastaro, G Lombardi, A Rossi, E Savi, L Spada, D Villalta, G Tabellini, M Saccarola, P Palumbo, G Marinucci, PM Strappini, F Viola, M Barbato, Roma, N Bizzaro, P Pasini, F Minetti, M Scogna, M Vascotto, G Morgese, F Bascietto, P Cantelmi, F Bulacanti, D Bassetti, S Santer, D Prizzon, S Loperfido, S Martelossi, T Not, A Ventura, E Tonutti, D Visentini, S Finazzi, S Salvatore, GV Melzi d’Eril, D Wolf, M Montesanto, M Negri, MG Azzeni, R Giordano, M Farina, S Micieli, V Gouilleux, O Bandin, A Tridon, M Meyer, F Bienvenu, G Beaune, S Jego, M San Marco, D Bernard, J Sarles, J Sahel, D Carre, S Benzaken, JF Demarquay, C Johanet, JJ Baudon.

Aims: Tissue transglutaminase (tTG) was recently identified as the major autoantigen in coeliac disease. The aim of this multicentre study was to evaluate the impact of a new immunoenzymatic assay for the detection of IgA anti-tGT antibodies. Methods

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::268919beb91cf04a390615120135a258
http://hdl.handle.net/11585/768472

Risk factors for congenital hypothyroidism: results of a population case-control study

Autor: Medda, E, Olivieri, A, Stazi, Ma, Grandolfo, Me, Fazzini, C, Baserga, M, Burroni, M, Cacciari, E, Calaciura, F, Cassio, A, Chiovato, L, Costa, Pietro, Leonardi, D, Martucci, M, Moschini, L, Pagliardini, S, Parlato, G, Pignero, A, Pinchera, A, Sala, D, Sava, L, Stoppioni, V, Tancredi, F, Valentini, F, Vigneri, R, Sorcini, M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::2905b08d6367084fb459d6bc602bbc5e
http://hdl.handle.net/11573/97673

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