Search Results - Carla Carducci

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  1. 1
    A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia

    A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia by Rosana Hermínia Scola, Carla Carducci, Vanise G. Amaral, Paulo José Lorenzoni, Hélio Afonso Ghizoni Teive, Teresa Giovanniello, Lineu César Werneck

    Published 2007
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  2. 2
    Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency

    Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency by Vincenzo Leuzzi, Ca Carducci, Carla Carducci, Simone Pozzessere, Alberto Burlina, R. Cerone, Daniela Concolino, Donati Ma, Laura M. Fiori, Concetta Meli, A Ponzone, Francesco Porta, Pietro Strisciuglio, I. Antonozzi, Nenad Blau

    Published 2010
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  3. 3
    Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

    Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype? by Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, Cristiana Artiola, André B. P. Kuilenburg, Carla Carducci, Martino Ruggieri, Rita Barone, Barbara Tavazzi, N. G. G. M. Abeling, Lida Zoetekouw, Vito Sofia, Mario Zappia, Claudia Carducci

    Published 2014
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  4. 4
    Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees

    Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees by Valério Carelli, Alessandro Achilli, Maria Lucia Valentino, Chiara Rengo, Ornella Semino, Maria Pala, Anna Olivieri, Marina Mattiazzi, Francesco Pallotti, Franco Carrara, Massimo Zeviani, Vincenzo Leuzzi, Carla Carducci, Giorgio Valle, Barbara Simionati, Luana Mendieta, Solange Rios Salomão, Rubens Belfort, Alfredo A. Sadun, Antonio Torroni

    Published 2006
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  5. 5
    Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

    Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience by Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi‐Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo la Marca, Luisa Spina, Tania Lorè, Concetta Meli, Marianna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Cláudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu

    Published 2022
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  6. 6
    The Genetic Landscape and Epidemiology of Phenylketonuria

    The Genetic Landscape and Epidemiology of Phenylketonuria by Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana Chiesa, John Christodoulou, Maja Đorđević, Lourdes R. Desviat, Aviva Eliyahu, Roeland A. F. Evers, Lena Fajkusova, François Feillet, Pedro E. Bonfim-Freitas, Maria Giżewska, П. Гундорова, Daniela Karall, Katya Kneller, Sergey I. Kutsev, Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter‐Konecki, Ania C. Muntau, Farès Namour, Mariusz Ołtarzewski, Andrea Paras, Belén Pérez, Emil Polák, A. V. Polyakov, Francesco Porta, Marianne Rohrbach, Sabine Scholl‐Bürgi, Norma Spécola, Maja Stojiljković, Nan Shen, Luiz C. Santana‐da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F. Garbade, Nenad Blau

    Published 2020
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  7. 7
    European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

    European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance by À. Munck, Daria Berger, Kevin W Southern, Carla Carducci, Karin M. de Winter–de Groot, Silvia Gärtner, N. Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani, Jürg Barben, Sabine Renner, Maximilian Zeyda, Elke De Wachter, Luc Regal, Felix Votava, A. Holubová, Marianne Skov, Tessa Morgan, Paul Bregeaut, Loretta O’Grady, Ines Bucci, Stefano Pantano, Simonetta Simonetti, Domenica De Venuto, Donatello Salvatore, Nicola Perrotti, Mimma Caloiero, Giuseppe Castaldo, Antonella Tosco, Francesca Righetti, Giovanna Pisi, F Battistini, Antonio Angeloni, G. Cimino, Giovanni Fiocchi, Antonella Angiolillo, Michela Cassanello, Luisella Alberti, Laura Claut, Raffaele Badolato, Enza Pavanello, Benedetta Fabrizzi, Elisabetta Bignamini, Anna Cardillo, Mariangela Lombardo, Letizia Cocciadiferro, Lisa Termini, Daniela Dolce, Vito Terlizzi, Anna Tamanini, Francesca Pauro, Giancarlo la Marca, Elīna Aleksejeva, Dita Gaidule-Logina, S. Fustik, Violeta Anastasovska, Marelle J. Bouva, Alastair Reid, Jennifer Cundick, Emma Lundman, Egil Bakkeheim, K. Zybert, Mariusz Ołtarzewski, Laura Vilarinho, V. Sherman, E. Kondratyeva, Sarah A. Smith, Gordana Vilotijevic Dautovic, Mária Knapková, Zuzana Mydlova, Rosa Ma López, Valle Velasco, Felicitas Díaz Flores, Cristóbal Colón Mejeras, Eva S.L. Pedersen, Uğur Özçelik, Bülent Karadağ, Halyna Makukh, Moat Stuart

    Published 2022
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