Publications by authors named "Marta Camilot"

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Women with Autoimmune Thyroiditis Taking Levothyroxine During Pregnancy: Is Iodine Supplementation Needed?
Simona Censi, Giulia Messina, Emma Feligiotti, Cristina Clausi, Ilaria Piva, Marta Camilot

Nutrients· January 2025

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Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Marta Camilot

Int J Neonatal Screen· July 2024

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Fifteen Years of Iodine Prophylaxis in Italy: Results of a Nationwide Surveillance (Period 2015-2019).
Simona De Angelis, Emanuela Medda, Daniela Rotondi, Maria Masocco, Valentina Minardi, Marta Camilot

J Clin Endocrinol Metab· January 2024

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A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Marta Camilot

Arch Endocrinol Metab· January 2023

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Benefits of rescreening newborns of mothers affected by autoimmune hypothyroidism.
Paolo Cavarzere, Laura Palma, Lara Nicolussi Principe, Monica Vincenzi, Silvana Lauriola, Marta Camilot

Eur Thyroid J· October 2022

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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.
Paolo Cavarzere, Marta Camilot, Laura Palma, Silvana Lauriola, Rossella Gaudino

Horm Res Paediatr· August 2022

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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Marta Camilot

Int J Neonatal Screen· August 2022

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A Gain-of-Function Mutation on Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Alice Maguolo, Giulia Rodella, Alejandro Giorgetti, Marion Nicolodi, Rui Ribeiro, Marta Camilot

Genes (Basel)· January 2022

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Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Alice Maguolo, Giulia Rodella, Alice Dianin, Irene Monge, Martina Messina, Marta Camilot

Front Pediatr· May 2021

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Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Francesco Macchione, Leonardo Salviati, Andrea Bordugo, Monica Vincenzi, Marta Camilot

J Neurol· May 2020

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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.
Simona Censi, Sara Watutantrige-Fernando, Giulia Groccia, Jacopo Manso, Mario Plebani, Marta Camilot

Nutrients· November 2019

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Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Marta Camilot

Ital J Pediatr· January 2018

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High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice.
Evelina Maines, Giorgia Gugelmo, Elisa Tadiotto, Angelo Pietrobelli, Natascia Campostrini, Marta Camilot

Public Health Nutr· October 2017

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Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management.
Paolo Cavarzere, Marta Camilot, Florina Ion Popa, Silvana Lauriola, Francesca Teofoli

Eur J Endocrinol· November 2016

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Analysis of the d3-growth hormone receptor polymorphism in large cohorts of small, appropriate and large for gestational age newborns.
Monica Vincenzi, Florina Ion Popa, Massimiliano Corradi, Alberto Gandini, Francesca Teofoli, Marta Camilot

Minerva Pediatr· June 2016

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Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature.
Maines Evelina, Morandi Grazia, Olivieri Francesca, Camilot Marta, Cavarzere Paolo

JIMD Rep· July 2015

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Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes.
Roberto Franceschi, Monica Vincenzi, Marta Camilot, Franco Antoniazzi, Anthony J Freemont

Calcif Tissue Int· June 2015

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Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature.
Evelina Maines, Grazia Morandi, Francesca Olivieri, Marta Camilot, Paolo Cavarzere

JIMD Rep· June 2015

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Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
Monica Vincenzi, Marta Camilot, Eleonora Ferrarini, Francesca Teofoli, Giacomo Venturi

BMC Endocr Disord· August 2014

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3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.
Florina Ion Popa, Silvia Perlini, Francesca Teofoli, Daniela Degani, Silvia Funghini, Marta Camilot

JIMD Rep· February 2013

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Enhanced interpretation of newborn screening results without analyte cutoff values.
Gregg Marquardt, Robert Currier, David M S McHugh, Dimitar Gavrilov, Mark J Magera, Marta Camilot

Genet Med· July 2012

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, Mahera Abdulrahman, Ona Adair, Marta Camilot, Marta Camilot

Genet Med· March 2011

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Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone.
Paolo Cavarzere, Monica Vincenzi, Rossella Gaudino, Roberto Franceschi, Silvia Perlini, Marta Camilot

Fertil Steril· November 2010

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Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
Giuseppina De Marco, Patrizia Agretti, Marta Camilot, Francesca Teofoli, Luciano Tatò

Clin Endocrinol (Oxf)· February 2009

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Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center.
Marta Camilot, Francesca Teofoli, Monica Vincenzi, Francesca Federici, Silvia Perlini

Genet Test· May 2008

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