New developments in the treatment of hyperammonemia: emerging use of carglumic acid by Marta Daniotti, Giancarlo la Marca, Patrizio Fiorini, et al

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Development of Strategies to Decrease False Positive Results in Newborn Screening by Sabrina Malvagia, Giulia Forni, Daniela Ombrone, Giancarlo la Marca

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Study protocol: treatment with caffeine of the very preterm infant in the delivery room: a feasibility study by Giancarlo la Marca, Fabio Mosca, Alessandra Cecchi, Giulia Remaschi, Domenica Mercadante, Luca Boni

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Communicating a Positive Result at Newborn Screening and Parental Distress by Elisa Lastrucci, Marta Daniotti, Elena Procopio, Giusi Scaturro, Flavia Tubili, Rosanna Martin, Giancarlo la Marca

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High frequency of biotinidase deficiency in Italian population identified by newborn screening by Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, Anna Caciotti, Maria Alice Donati, Amelia Morrone, Giancarlo la Marca

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Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up by Marta Peruzzi, Matteo Ramazzotti, Roberta Damiano, Marzia Vasarri, Giancarlo la Marca, Cinzia Arzilli, Raffaele Piumelli, Niccolò Nassi, Donatella Degl'Innocenti

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Data in support for the measurement of heparan sulfate and dermatan sulfate by LC–MS/MS analysis by Giulia Forni, Sabrina Malvagia, Silvia Funghini, Emanuela Scolamiero, Massimo Mura, Maria Della Bona, Fabio Villanelli, Roberta Damiano, Giancarlo la Marca

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Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm by Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham, Peter. C. J. I. Schielen

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Effect of Beta 3 Adrenoreceptor Modulation on Patency of the Ductus Arteriosus by Alessandro Pini, Camilla Fazi, Patrizia Nardini, Maura Calvani, Sergio Fabbri, Alessandro Guerrini, Giulia Forni, Giancarlo La Marca, Arianna Carolina Rosa, Luca Filippi

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Serum Levels of Acyl-Carnitines along the Continuum from Normal to Alzheimer's Dementia. by Adriana Cristofano, Nadia Sapere, Giancarlo La Marca, Antonella Angiolillo, Michela Vitale, Graziamaria Corbi, Giovanni Scapagnini, Mariano Intrieri, Claudio Russo, Gaetano Corso, Alfonso Di Costanzo

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Serum Amino Acid Profiles in Normal Subjects and in Patients with or at Risk of Alzheimer Dementia by Gaetano Corso, Adriana Cristofano, Nadia Sapere, Giancarlo la Marca, Antonella Angiolillo, Michela Vitale, Roberto Fratangelo, Teresa Lombardi, Carola Porcile, Mariano Intrieri, Alfonso Di Costanzo

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Author Correction: Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy by Federico A. Moretti, Giuliana Giardino, Teresa C. H. Attenborough, Athina Soragia Gkazi, Ben K. Margetts, Giancarlo la Marca, Lynette Fairbanks, Tessa Crompton, H. Bobby Gaspar

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Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy by Federico A. Moretti, Giuliana Giardino, Teresa C. H. Attenborough, Athina Soragia Gkazi, Ben K. Margetts, Giancarlo la Marca, Lynette Fairbanks, Tessa Crompton, H. Bobby Gaspar

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Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples by Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck

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A New Web Score to Predict Health Status in Paediatric Patients with Chronic Diseases: Design and Development of the PENSAMI Study by Francesca Mastorci, Lamia Ait-Ali, Pierluigi Festa, Marco Martini, Luigi Gagliardi, Giovanni Calabri, Giancarlo La Marca, Gabriele Trivellini, Anselmo Casu, Stefano Dalmiani, Paolo Marcheschi, Simona Celi, Alessandro Pingitore

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

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From geriatric assessment to inflammation. A pilot, observational, study about frailty components in older patients with persistent atrial fibrillation by Stefano Fumagalli, Giulia Ricciardi, Claudia Di Serio, Elisa Berni, Giancarlo La Marca, Giuseppe Pieraccini, Riccardo Romoli, Emanuele Santamaria, Giulia Spanalatte, Camilla Cagnoni, Arianna Tariello, Giada Alla Viligiardi, Agostino Virdis, Igor Diemberger, Andrea Ungar, Niccolò Marchionni

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P1392: INTERIM ANALYSIS OF FIRST IN HUMAN PHASE I-II CLINICAL TRIAL OF EX-VIVO GENE THERAPY FOR HURLER SYNDROME: AN UPDATE AT 3 YEAR FOLLOW-UP by Francesca Tucci, Giulia Consiglieri, Chiara Filisetti, Maurizio De Pellegrin, Renata Mellone, Francesca Fumagalli, Silvia Darin, Marina Sarzana, Stefano Scarparo, Francesca Ciotti, Paolo Silvani, Cristina Baldoli, Silvia Pontesilli, Rossella Parini, Giancarlo la Marca, Fabio Ciceri, Luigi Naldini, Alessandro Aiuti, Bernhard Gentner, Maria Ester Bernardo

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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening by Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez-Gallo, Roger Colobran, Ana Argudo-Ramírez, Jose Luis Marín-Soria, Judit García-Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, Pere Soler-Palacín

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Towards Achieving Equity and Innovation in Newborn Screening across Europe by Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham

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