Hasil Pencarian - Francesco Porta

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  1. 1
    Insulinoma in pediatric tuberous sclerosis complex: a case report

    Insulinoma in pediatric tuberous sclerosis complex: a case report oleh Katia Librandi, Serena Grimaldi, Silvia Catalano, Francesco Moro, Stefano Gabriele Vallero, Marco Spada, Francesco Porta

    Diterbitkan 2023-07-01
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  2. 2
    Neonatal screening for biotinidase deficiency: A 30-year single center experience

    Neonatal screening for biotinidase deficiency: A 30-year single center experience oleh Francesco Porta, Veronica Pagliardini, Isabella Celestino, Enza Pavanello, Severo Pagliardini, Ornella Guardamagna, Alberto Ponzone, Marco Spada

    Diterbitkan 2017-12-01
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  3. 3
    Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase.

    Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. oleh Ilaria Roato, Francesco Porta, Alessandro Mussa, Lucia D'Amico, Ludovica Fiore, Davide Garelli, Marco Spada, Riccardo Ferracini

    Diterbitkan 2010-01-01
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  4. 4
    Efficacy of a single ultrasound-guided injection of high molecular weight hyaluronic acid combined with collagen tripeptide in patients with knee osteoarthritis and chondrocalcinosis

    Efficacy of a single ultrasound-guided injection of high molecular weight hyaluronic acid combined with collagen tripeptide in patients with knee osteoarthritis and chondrocalcinos... oleh Francesco Porta, Emilio Filippucci, Edoardo Cipolletta, Edoardo Cipolletta, Marco La Grua, Xenia Barni, Silvia Sirotti, Florentin Ananu Vreju

    Diterbitkan 2024-07-01
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  5. 5
    Comparison of three treatment protocols with intra-articular low or intermediate molecular weight hyaluronic acid in early symptomatic knee osteoarthritis

    Comparison of three treatment protocols with intra-articular low or intermediate molecular weight hyaluronic acid in early symptomatic knee osteoarthritis oleh Felice Galluccio, Daniela D’Angela, Barbara Polistena, Francesco Porta, Tatiana Barskova, Lorenzo Tofani, Federico Spandonaro, Marco Matucci-Cerinic

    Diterbitkan 2021-04-01
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  6. 6
    Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy

    Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy oleh Francesco Porta, Arianna Maiorana, Vincenza Gragnaniello, Elena Procopio, Serena Gasperini, Roberta Taurisano, Marco Spada, Carlo Dionisi-Vici, Alberto Burlina

    Diterbitkan 2024-10-01
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  7. 7
    Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

    Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists oleh Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada

    Diterbitkan 2022-02-01
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  8. 8
    Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus

    Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus oleh Carlotta Spagnoli, Roberta Battini, Filippo Manti, Duccio Maria Cordelli, Andrea Pession, Melissa Bellini, Andrea Bordugo, Gaetano Cantalupo, Antonella Riva, Pasquale Striano, Marco Spada, Francesco Porta, Carlo Fusco

    Diterbitkan 2024-01-01
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  9. 9
    Metabolic pseudoprogression in a patient with metastatic KIT exon 11 GIST after 1 month of first-line imatinib: a case report

    Metabolic pseudoprogression in a patient with metastatic KIT exon 11 GIST after 1 month of first-line imatinib: a case report oleh Elisa Tassinari, Nicole Conci, Giacomo Battisti, Francesco Porta, Valerio Di Scioscio, Maria Giulia Pirini, Dario de Biase, Maria Concetta Nigro, Miriam Iezza, Miriam Iezza, Fausto Castagnetti, Fausto Castagnetti, Luigi Lovato, Stefano Fanti, Maria Abbondanza Pantaleo, Maria Abbondanza Pantaleo, Margherita Nannini, Margherita Nannini

    Diterbitkan 2023-12-01
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  10. 10
    Which are the most frequently involved peripheral joints in calcium pyrophosphate crystal deposition at imaging? A systematic literature review and meta-analysis by the OMERACT ultrasound – CPPD subgroup

    Which are the most frequently involved peripheral joints in calcium pyrophosphate crystal deposition at imaging? A systematic literature review and meta-analysis by the OMERACT ult... oleh Antonella Adinolfi, Silvia Sirotti, Garifallia Sakellariou, Garifallia Sakellariou, Edoardo Cipolletta, Emilio Filippucci, Francesco Porta, Anna Zanetti, Nicola Ughi, Nicola Ughi, Piercarlo Sarzi-Puttini, Piercarlo Sarzi-Puttini, Carlo Alberto Scirè, Carlo Alberto Scirè, Helen Keen, Carlos Pineda, Lene Terslev, Maria Antonietta D’Agostino, Georgios Filippou

    Diterbitkan 2023-03-01
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  11. 11
    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis oleh Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy

    Diterbitkan 2022-12-01
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  12. 12
    OMERACT agreement and reliability study of ultrasonographic elementary lesions in osteoarthritis of the foot

    OMERACT agreement and reliability study of ultrasonographic elementary lesions in osteoarthritis of the foot oleh Carlo Alberto Scirè, Maria Antonietta D'Agostino, Annamaria Iagnocco, Alen Zabotti, Georgios Filippou, Marco Canzoni, Antonella Adinolfi, Valentina Picerno, Greta Carrara, Peter Balint, Nemanja Damjanov, Andrea Delle Sedie, Emilio Filippucci, Maria Luz Gonzalez Fernandez, Hilde Berner Hammer, Zunaid Karim, Peter Mandl, Ingrid Moller, Maria Rosario Morales Lozano, Esperanza Naredo, Francesco Porta, Garifallia Sakellariou, Lene Terslev, Fabiana Figus, Iolanda Rutigliano, Chiara Scirocco, George A Bruyn

    Diterbitkan 2019-06-01
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  13. 13
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies oleh Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

    Diterbitkan 2020-05-01
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  14. 14
    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines oleh Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen

    Diterbitkan 2021-09-01
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  15. 15
    Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies oleh Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

    Diterbitkan 2020-08-01
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  16. 16
    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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