Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency von Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo

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Newborn screening in mucopolysaccharidoses von Donati, Maria Alice, Pasquini, Elisabetta, Spada, Marco, Polo, Giulia, Burlina, Alberto

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Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines von Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.

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Genetic Contributions to the Development of Complications in Preterm Newborns von Poggi, Chiara, Giusti, Betti, Gozzini, Elena, Sereni, Alice, Romagnuolo, Ilaria, Kura, Ada, Pasquini, Elisabetta, Abbate, Rosanna, Dani, Carlo

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3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals von Grünert, Sarah C, Stucki, Martin, Morscher, Raphael J, Suormala, Terttu, Bürer, Celine, Burda, Patricie, Christensen, Ernst, Ficicioglu, Can, Herwig, Jürgen, Kölker, Stefan, Möslinger, Dorothea, Pasquini, Elisabetta, Santer, René, Schwab, K Otfried, Wilcken, Bridget, Fowler, Brian, Yue, Wyatt W, Baumgartner, Matthias R

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Roma V’aspetta!»: incarichi di padre Martini nella città papale von Elisabetta Pasquini

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Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature von Cavicchi, Catia, Chilleri, Chiara, Fioravanti, Antonella, Ferri, Lorenzo, Ripandelli, Francesco, Costa, Cinzia, Calabresi, Paolo, Prontera, Paolo, Pochiero, Francesca, Pasquini, Elisabetta, Funghini, Silvia, la Marca, Giancarlo, Donati, Maria Alice, Morrone, Amelia

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Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency von Carducci, Claudia, Santagata, Silvia, Friedman, Jennifer, Pasquini, Elisabetta, Carducci, Carla, Tolve, Manuela, Angeloni, Antonio, Leuzzi, Vincenzo

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Correction to: Newborn screening in mucopolysaccharidoses von Donati, Maria Alice, Pasquini, Elisabetta, Spada, Marco, Polo, Giulia, Burlina, Alberto

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Editoriale 2023: esperienze multidisciplinari von Elisabetta Pasquini

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Bollettino dell’Officina San Francesco Bologna 2023 von Elisabetta Pasquini

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Un percorso didattico sul madrigale del Trecento: «Appress’un fiume chiaro» di Giovanni da Cascia von Elisabetta Pasquini

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Bollettino dell'Officina San Francesco Bologna 2021 e 2022 von Elisabetta Pasquini

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Editoriale 2022: un progetto culturale e un battesimo von Elisabetta Pasquini

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Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples von la Marca, Giancarlo, Casetta, Bruno, Malvagia, Sabrina, Pasquini, Elisabetta, Innocenti, Marzia, Donati, Maria Alice, Zammarchi, Enrico

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Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies von Ferri, Lorenzo, Baronio, Federico, Guerrini, Renzo, Mooney, Sean D., Morrone, Amelia, Cavicchi, Catia, Pasquini, Elisabetta, la Marca, Giancarlo, Malvagia, Sabrina, Tonin, Rodolfo, Thusberg, Janita, Caciotti, Anna, Catarzi, Serena, Donati, Maria A.

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Reducing the False-Positive Rate for Isovalerylcarnitine in Expanded Newborn Screening von Sara Poggiali BSc, MT, Daniela Ombrone BSc, Giulia Forni BSc, Sabrina Malvagia BSc, Silvia Funghini BSc, PhD, Massimo Mura Pharm Sc, Elisabetta Pasquini MD, Laura Santoro BSc, Vincenzo Bellavia BSc, Orazia Maria Granata BSc, Cinzia Castana MD, Kathleen S. McGreevy PhD, Tommaso Silvano Aronica MD, Giancarlo la Marca Pharm Sc

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Clinical profile and outcome of cardiac involvement in MELAS syndrome von Brambilla, Alice, Favilli, Silvia, Olivotto, Iacopo, Calabri, Giovanni Battista, Porcedda, Giulio, De Simone, Luciano, Procopio, Elena, Pasquini, Elisabetta, Donati, Maria Alice

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North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy von Mazzone, Elena, Martinelli, Diego, Berardinelli, Angela, Messina, Sonia, D’Amico, Adele, Vasco, Gessica, Main, Marion, Doglio, Luca, Politano, Luisa, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Carlesi, Adelina, Bonetti, Anna Maria, Zucchini, Elisabetta, Sanctis, Roberto De, Scutifero, Marianna, Bianco, Flaviana, Rossi, Francesca, Motta, Maria Chiara, Sacco, Annalisa, Donati, Maria Alice, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Pane, Marika, Pasquini, Elisabetta, Bruno, Claudio, Vita, Giuseppe, Waure, Chiara de, Bertini, Enrico, Mercuri, Eugenio

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Respinto da un impensato vento contrario in alto mare»: Anton Raaff, il Farinelli e la "Storia della musica" di Giambattista Martini von Pasquini, Elisabetta

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