Hasil Pencarian - Carla Carducci

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  1. 1
    <i>KCND3</i>-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

    <i>KCND3</i>-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes oleh Luca Pollini, Serena Galosi, Manuela Tolve, Caterina Caputi, Carla Carducci, Antonio Angeloni, Vincenzo Leuzzi

    Diterbitkan 2020-08-01
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  2. 2
    Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction

    Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction oleh Alberto Spalice, Francesca Del Balzo, Francesco Massimo Perla, Enrico Properzi, Carla Carducci, Italo Antonozzi, Paola Iannetti

    Diterbitkan 2009-11-01
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  3. 3
    Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

    Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male oleh Luca Pollini, Manuela Tolve, Francesca Nardecchia, Serena Galosi, Claudia Carducci, Emanuele di Carlo, Carla Carducci, Vincenzo Leuzzi

    Diterbitkan 2020-03-01
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  4. 4
    A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva

    A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva oleh Rosana H. Scola, Carla Carducci, Vanise G. Amaral, Paulo J. Lorenzoni, Helio A.G. Teive, Teresa Giovanniello, Lineu C. Werneck

    Diterbitkan 2007-12-01
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  5. 5
    Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)

    Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) oleh Martino L. di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi

    Diterbitkan 2017-12-01
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  6. 6
    Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

    Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan oleh Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah, Kefah Al Qaqa, Momen Al Aqeel, Cristiana Artiola, Manuela Tolve, Sirio D'Amici, Nan Shen, Yongguo Yu, Alicia Hillert, Nastassja Himmelreich, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau

    Diterbitkan 2020-09-01
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  7. 7
    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 oleh 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 La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu

    Diterbitkan 2022-08-01
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