يعرض 1 - 10 نتائج من 45 نتيجة بحث عن '"Marta Camilot"', وقت الاستعلام: 0.94s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

    المؤلفون: Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Alessandra Filippi, Enza Maria Valente, Massimo Plumari, Massimo Soffiati, Monica Vincenzi, Francesca Teofoli, Marta Camilot

    المصدر: Archives of Endocrinology and Metabolism, Vol 67, Iss 1, Pp 143-149 (2023)

    مصطلحات موضوعية: Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972023000100143&tlng=en; https://doaj.org/toc/2359-4292

    URL الوصول: https://doaj.org/article/a12e4d2e2aec428cbce0bd517840a4fc

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  2. 2
    دورية أكاديمية
    Benefits of rescreening newborns of mothers affected by autoimmune hypothyroidism

    المؤلفون: Paolo Cavarzere, Laura Palma, Lara Nicolussi Principe, Monica Vincenzi, Silvana Lauriola, Rossella Gaudino, Virginia Murri, Luigi Lubrano, Giuliana Rossi, Alessia Sallemi, Ermanna Fattori, Marta Camilot, Franco Antoniazzi

    المصدر: European Thyroid Journal, Vol 11, Iss 5, Pp 1-8 (2023)

    مصطلحات موضوعية: maternal autoimmune hypothyroidism, neonatal hypothyroidism, newborn screening, anti-thyroid antibodies, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

    وصف الملف: electronic resource

    Relation: https://etj.bioscientifica.com/view/journals/etj/11/5/ETJ-22-0060.xml; https://doaj.org/toc/2235-0802

    URL الوصول: https://doaj.org/article/6a17ae8857b443aebb86dba38e7c2c37

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  3. 3
    دورية أكاديمية
    Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

    المؤلفون: 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

    المصدر: International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)

    مصطلحات موضوعية: aminoacidemias, fatty acid oxidation disorders, inborn errors of metabolism, newborn screening, organic acidemias, urea cycle defects, Pediatrics, RJ1-570

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2409-515X/8/3/47; https://doaj.org/toc/2409-515X

    URL الوصول: https://doaj.org/article/693ce51ab3634e2681369cd0d228d859

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  4. 4
    دورية أكاديمية
    Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy

    المؤلفون: Alice Maguolo, Giulia Rodella, Alice Dianin, Irene Monge, Martina Messina, Erika Rigotti, Francesca Pellegrini, Grazia Molinaro, Fiorenzo Lupi, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Francesca Teofoli, Monica Vincenzi, Marta Camilot, Giorgio Piacentini, Andrea Bordugo

    المصدر: Frontiers in Pediatrics, Vol 9 (2021)

    مصطلحات موضوعية: biotinidase enzymatic activity, genotype-phenotype correlation analysis, biotinidase deficiency incidence, biotinidase deficiency, newborn screening, biotinidase deficiency disorder gene, Pediatrics, RJ1-570

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.661416/full; https://doaj.org/toc/2296-2360

    URL الوصول: https://doaj.org/article/63fdc4a8fd674a3bb3bd5dfb6b3ac3ed

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  5. 5
    دورية أكاديمية
    A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism

    المؤلفون: Alice Maguolo, Giulia Rodella, Alejandro Giorgetti, Marion Nicolodi, Rui Ribeiro, Alice Dianin, Gaetano Cantalupo, Irene Monge, Sarah Carcereri, Margherita Lucia De Bernardi, Massimo Delledonne, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Giorgio Piacentini, Francesca Teofoli, Monica Vincenzi, Marta Camilot, Andrea Bordugo

    المصدر: Genes, Vol 13, Iss 2, p 233 (2022)

    مصطلحات موضوعية: maple syrup urine disease, leucinosis, branched-chain amino acid metabolism, branched-chain ketoacid dehydrogenase kinase, newborn screening, genetic analysis, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4425/13/2/233; https://doaj.org/toc/2073-4425

    URL الوصول: https://doaj.org/article/6ba661eb7d7c494abce5694e0b136c07

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  6. 6
    دورية أكاديمية
    Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

    المؤلفون: Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot, Franco Antoniazzi

    المصدر: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-6 (2018)

    مصطلحات موضوعية: Premature pubarche, 17-Ohp, Newborn screening, Congenital adrenal hyperplasia, Pediatrics, RJ1-570

    وصف الملف: electronic resource

    Relation: http://link.springer.com/article/10.1186/s13052-018-0444-6; https://doaj.org/toc/1824-7288

    URL الوصول: https://doaj.org/article/2376c08fd05c4c77a0dfe1d79c577e52

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  7. 7
    دورية أكاديمية
    The Effects of Iodine Supplementation in Pregnancy on Iodine Status, Thyroglobulin Levels and Thyroid Function Parameters: Results from a Randomized Controlled Clinical Trial in a Mild-to-Moderate Iodine Deficiency Area

    المؤلفون: Simona Censi, Sara Watutantrige-Fernando, Giulia Groccia, Jacopo Manso, Mario Plebani, Diego Faggian, Monica Maria Mion, Roberta Venturini, Alessandra Andrisani, Anna Casaro, Pietro Vita, Alessandra Avogadro, Marta Camilot, Carla Scaroni, Loris Bertazza, Susi Barollo, Caterina Mian

    المصدر: Nutrients, Vol 11, Iss 11, p 2639 (2019)

    مصطلحات موضوعية: iodine, pregnancy, mild-to-moderate iodine deficiency, randomized and placebo-controlled trial, Nutrition. Foods and food supply, TX341-641

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2072-6643/11/11/2639; https://doaj.org/toc/2072-6643

    URL الوصول: https://doaj.org/article/2a3caa7b1a1e45cdba8194ef736ae9a7

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  8. 8
    كتاب إلكتروني
    Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature

    المؤلفون: Evelina, MainesAff8, Grazia, MorandiAff8, Francesca, OlivieriAff8, Marta, CamilotAff8, Paolo, CavarzereAff8, Rossella, GaudinoAff8, Franco, AntoniazziAff8, Andrea, BordugoAff8

    المساهمون: Zschocke, Johannes, Editor-in-chiefAff1, Aff2, Baumgartner, Matthias, editorAff3, Morava, Eva, editorAff4, Patterson, Marc, editorAff5, Rahman, Shamima, editorAff6, Peters, Verena, editorAff7

    المصدر: JIMD Reports, Volume 19. 19:35-41

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  9. 9
    A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

    المؤلفون: Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Alessandra Filippi, Enza Maria Valente, Massimo Plumari, Massimo Soffiati, Monica Vincenzi, Francesca Teofoli, Marta Camilot

    المصدر: Archives of Endocrinology and Metabolism.

    مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::281a30bba8eaa917fd9b311ba6c23d43
    https://doi.org/10.20945/2359-3997000000546

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  10. 10
    Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test

    المؤلفون: Paolo Cavarzere, Marta Camilot, Laura Palma, Silvana Lauriola, Rossella Gaudino, Monica Vincenzi, Franco Antoniazzi, Francesca Teofoli, Giorgio Piacentini

    المصدر: Hormone Research in Paediatrics. 95:255-263

    مصطلحات موضوعية: Neonatal Screening, Endocrinology, Adrenal Hyperplasia, Congenital, Tandem Mass Spectrometry, 17-alpha-Hydroxyprogesterone, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Infant, Newborn, Humans, Child, Chromatography, Liquid

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b383a7120bad7e216b07e7aa18eca5c
    https://doi.org/10.1159/000524170

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