Publications by authors named "Elisabetta Salvatici"

15Publications

PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.

Am J Med Genet A 2020 06 21;182(6):1477-1482. Epub 2020 Mar 21.

Child Neuropsychiatry Unit-Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61555DOI Listing
June 2020

Psychological wellbeing in parents of children with phenylketonuria and association with treatment adherence.

Minerva Pediatr 2018 Apr 12. Epub 2018 Apr 12.

Clinical Psychology, Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.23736/S0026-4946.18.05126-5DOI Listing
April 2018

Predictability and inconsistencies in the cognitive outcome of early treated PKU patients.

J Inherit Metab Dis 2017 11 23;40(6):793-799. Epub 2017 Aug 23.

Department of Pediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy.

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http://dx.doi.org/10.1007/s10545-017-0082-yDOI Listing
November 2017

Psychological and psychosocial implications for parenting a child with phenylketonuria: a systematic review.

Minerva Pediatr 2019 Apr 4;71(2):181-195. Epub 2017 May 4.

Unit of Clinical Psychology, Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.23736/S0026-4946.17.04950-7DOI Listing
April 2019

Cerumen: A fundamental but neglected problem by pediatricians.

Int J Pediatr Otorhinolaryngol 2016 Aug 20;87:55-60. Epub 2016 May 20.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1016/j.ijporl.2016.05.014DOI Listing
August 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Randomized controlled trial of a protein substitute with prolonged release on the protein status of children with phenylketonuria.

J Am Coll Nutr 2014 ;33(2):103-10

a Department of Paediatrics , San Paolo Hospital, University of Milan , Milan , ITALY.

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http://dx.doi.org/10.1080/07315724.2013.857281DOI Listing
December 2014

Preliminary data on immunogenicity, safety and tolerability of trivalent inactivated influenza vaccine in children with inborn errors of metabolism at risk of decompensation.

Vaccine 2013 Oct 5;31(45):5149-51. Epub 2013 Sep 5.

Pediatric Clinic 1, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0264410X130117
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http://dx.doi.org/10.1016/j.vaccine.2013.08.058DOI Listing
October 2013

Fabry disease presenting with sudden hearing loss and otosclerosis: a case report.

J Med Case Rep 2012 Apr 16;6:112. Epub 2012 Apr 16.

Department of Otorhinolaryngology, San Paolo Hospital, University of Milan, Via A, Di Rudinì 8, 20142, Milano, Italy.

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http://dx.doi.org/10.1186/1752-1947-6-112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3342865PMC
April 2012

Phenylketonuria: nutritional advances and challenges.

Nutr Metab (Lond) 2012 Feb 3;9(1). Epub 2012 Feb 3.

Department of Pediatrics, San Paolo Hospital, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1186/1743-7075-9-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395819PMC
February 2012

Long-chain polyunsaturated fatty acids profile in plasma phospholipids of hyperphenylalaninemic children on unrestricted diet.

Prostaglandins Leukot Essent Fatty Acids 2011 Jan-Feb;84(1-2):39-42

Department of Paediatrics, San Paolo Hospital, University of Milan, Via di Rudinì 8, 20142 Milan, Italy.

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http://dx.doi.org/10.1016/j.plefa.2010.09.003DOI Listing
June 2011