Elisabetta Pasquini

Elisabetta Pasquini

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Elisabetta Pasquini

Elisabetta Pasquini

Publications by authors named "Elisabetta Pasquini"

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Correction to: Newborn screening in mucopolysaccharidoses.

Ital J Pediatr 2019 06 11;45(1):71. Epub 2019 Jun 11.

Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy.

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http://dx.doi.org/10.1186/s13052-019-0665-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560754PMC
June 2019

A genetic modifier of symptom onset in Pompe disease.

EBioMedicine 2019 May 25;43:553-561. Epub 2019 Mar 25.

Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.03.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562017PMC
May 2019

Clinical profile and outcome of cardiac involvement in MELAS syndrome.

Int J Cardiol 2019 Feb 23;276:14-19. Epub 2018 Oct 23.

Department of Inherited Neuro-metabolic Disorders, Anna Meyer Children's Hospital, viale Pieraccini 24, 50159 Florence, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01675273183494
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http://dx.doi.org/10.1016/j.ijcard.2018.10.051DOI Listing
February 2019

Newborn screening in mucopolysaccharidoses.

Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. Epub 2018 Nov 16.

Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children's Health, University Hospital of Padova, Via Orus 2/B, 35129, Padova, Italy.

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http://dx.doi.org/10.1186/s13052-018-0552-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238254PMC
November 2018

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.

Muscle Nerve 2017 06 26;55(6):E24-E25. Epub 2017 Mar 26.

Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.

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http://dx.doi.org/10.1002/mus.25407DOI Listing
June 2017

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

J Inherit Metab Dis 2015 Nov 12;38(6):1007-19. Epub 2015 Mar 12.

Laboratory Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg, Freiburg, Germany.

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http://link.springer.com/10.1007/s10545-015-9830-z
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http://dx.doi.org/10.1007/s10545-015-9830-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539PMC
November 2015

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.

Mol Genet Metab 2015 Aug 25;115(4):157-60. Epub 2015 Jun 25.

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

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153002
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http://dx.doi.org/10.1016/j.ymgme.2015.06.009DOI Listing
August 2015

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.

Clin Chim Acta 2015 May 18;445:70-2. Epub 2015 Mar 18.

Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.03.010DOI Listing
May 2015

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

ScientificWorldJournal 2013 31;2013:625824. Epub 2013 Oct 31.

Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Viale Pieraccini 24, 50139 Florence, Italy ; Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Viale Pieraccini 24, 50139 Florence, Italy.

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http://dx.doi.org/10.1155/2013/625824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833120PMC
June 2014

Genetic polymorphisms of antioxidant enzymes in preterm infants.

J Matern Fetal Neonatal Med 2012 Oct;25 Suppl 4:131-4

Department of Medical and Surgical Critical Care, Neonatology Section, Careggi University Hospital, Florence, Italy.

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http://dx.doi.org/10.3109/14767058.2012.714976DOI Listing
October 2012

Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants.

Free Radic Res 2012 Sep 13;46(9):1130-9. Epub 2012 Jun 13.

Department of Medical and Surgical Critical Care, University of Florence, Atherothrombotic Diseases Centre, Careggi University Hospital of Florence, Florence, Italy.

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http://dx.doi.org/10.3109/10715762.2012.692787DOI Listing
September 2012

Enhanced interpretation of newborn screening results without analyte cutoff values.

Authors:
Gregg Marquardt Robert Currier David M S McHugh Dimitar Gavrilov Mark J Magera Dietrich Matern Devin Oglesbee Kimiyo Raymond Piero Rinaldo Emily H Smith Silvia Tortorelli Coleman T Turgeon Fred Lorey Bridget Wilcken Veronica Wiley Lawrence C Greed Barry Lewis François Boemer Roland Schoos Sandrine Marie Marie-Françoise Vincent Yuri Cleverthon Sica Mouseline Torquado Domingos Khalid Al-Thihli Graham Sinclair Osama Y Al-Dirbashi Pranesh Chakraborty Mark Dymerski Cory Porter Adrienne Manning Margretta R Seashore Jonessy Quesada Alejandra Reuben Petr Chrastina Petr Hornik Iman Atef Mandour Sahar Abdel Atty Sharaf Olaf Bodamer Bonifacio Dy Jasmin Torres Roberto Zori David Cheillan Christine Vianey-Saban David Ludvigson Adrya Stembridge Jim Bonham Melanie Downing Yannis Dotsikas Yannis L Loukas Vagelis Papakonstantinou Georgios S A Zacharioudakis Ákos Baráth Eszter Karg Leifur Franzson Jon J Jonsson Nancy N Breen Barbara G Lesko Stanton L Berberich Kimberley Turner Margherita Ruoppolo Emanuela Scolamiero Italo Antonozzi Claudia Carducci Ubaldo Caruso Michela Cassanello Giancarlo la Marca Elisabetta Pasquini Iole Maria Di Gangi Giuseppe Giordano Marta Camilot Francesca Teofoli Shawn M Manos Colleen K Peterson Stephanie K Mayfield Gibson Darrin W Sevier Soo-Youn Lee Hyung-Doo Park Issam Khneisser Phaidra Browning Fizza Gulamali-Majid Michael S Watson Roger B Eaton Inderneel Sahai Consuelo Ruiz Rosario Torres Mary A Seeterlin Eleanor L Stanley Amy Hietala Mark McCann Carlene Campbell Patrick V Hopkins Monique G de Sain-Van der Velden Bert Elvers Mark A Morrissey Sherlykutty Sunny Detlef Knoll Dianne Webster Dianne M Frazier Julie D McClure David E Sesser Sharon A Willis Hugo Rocha Laura Vilarinho Catharine John James Lim S Graham Caldwell Kathy Tomashitis Daisy E Castiñeiras Ramos Jose Angel Cocho de Juan Inmaculada Rueda Fernández Raquel Yahyaoui Macías José María Egea-Mellado Inmaculada González-Gallego Carmen Delgado Pecellin Maria Sierra García-Valdecasas Bermejo Yin-Hsiu Chien Wuh-Liang Hwu Thomas Childs Christine D McKeever Tijen Tanyalcin Mahera Abdulrahman Cecilia Queijo Aída Lemes Tim Davis William Hoffman Mei Baker Gary L Hoffman

Genet Med 2012 Jul 16;14(7):648-55. Epub 2012 Feb 16.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1038/gim.2012.2DOI Listing
July 2012

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Orphanet J Rare Dis 2012 May 29;7:31. Epub 2012 May 29.

Division of Metabolism and Children's Research Center (CRC), University Children's Hospital Zurich, and Zürich Center for Integrative Human Physiology (ZHIP), University of Zürich, Steinwiesstraße 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-7-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495011PMC
May 2012

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Authors:
David M S McHugh Cynthia A Cameron Jose E Abdenur Mahera Abdulrahman Ona Adair Shahira Ahmed Al Nuaimi Henrik Åhlman Jennifer J Allen Italo Antonozzi Shaina Archer Sylvia Au Christiane Auray-Blais Mei Baker Fiona Bamforth Kinga Beckmann Gessi Bentz Pino Stanton L Berberich Robert Binard François Boemer Jim Bonham Nancy N Breen Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Sandra C Bryant Michele Caggana S Graham Caldwell Marta Camilot Carlene Campbell Claudia Carducci Rohit Cariappa Clover Carlisle Ubaldo Caruso Michela Cassanello Ane Miren Castilla Daisy E Castiñeiras Ramos Pranesh Chakraborty Ram Chandrasekar Alfredo Chardon Ramos David Cheillan Yin-Hsiu Chien Thomas A Childs Petr Chrastina Yuri Cleverthon Sica Jose Angel Cocho de Juan Maria Elena Colandre Veronica Cornejo Espinoza Gaetano Corso Robert Currier Denis Cyr Noemi Czuczy Oceania D'Apolito Tim Davis Monique G de Sain-Van der Velden Carmen Delgado Pecellin Iole Maria Di Gangi Cristina Maria Di Stefano Yannis Dotsikas Melanie Downing Stephen M Downs Bonifacio Dy Mark Dymerski Inmaculada Rueda Bert Elvers Roger Eaton Barbara M Eckerd Fatma El Mougy Sarah Eroh Mercedes Espada Catherine Evans Sandy Fawbush Kristel F Fijolek Lawrence Fisher Leifur Franzson Dianne M Frazier Luciana R C Garcia Maria Sierra García-Valdecasas Bermejo Dimitar Gavrilov Rosemarie Gerace Giuseppe Giordano Yolanda González Irazabal Lawrence C Greed Robert Grier Elyse Grycki Xuefan Gu Fizza Gulamali-Majid Arthur F Hagar Lianshu Han W Harry Hannon Christa Haslip Fayza Abdelhamid Hassan Miao He Amy Hietala Leslie Himstedt Gary L Hoffman William Hoffman Philis Hoggatt Patrick V Hopkins David M Hougaard Kerie Hughes Patricia R Hunt Wuh-Liang Hwu June Hynes Isabel Ibarra-González Cindy A Ingham Maria Ivanova Ward B Jacox Catharine John John P Johnson Jón J Jónsson Eszter Karg David Kasper Brenda Klopper Dimitris Katakouzinos Issam Khneisser Detlef Knoll Hirinori Kobayashi Ronald Koneski Viktor Kozich Rasoul Kouapei Dirk Kohlmueller Ivo Kremensky Giancarlo la Marca Marcia Lavochkin Soo-Youn Lee Denis C Lehotay Aida Lemes Joyce Lepage Barbara Lesko Barry Lewis Carol Lim Sharon Linard Martin Lindner Michele A Lloyd-Puryear Fred Lorey Yannis L Loukas Julie Luedtke Neil Maffitt J Fergall Magee Adrienne Manning Shawn Manos Sandrine Marie Sônia Marchezi Hadachi Gregg Marquardt Stephen J Martin Dietrich Matern Stephanie K Mayfield Gibson Philip Mayne Tonya D McCallister Mark McCann Julie McClure James J McGill Christine D McKeever Barbara McNeilly Mark A Morrissey Paraskevi Moutsatsou Eleanor A Mulcahy Dimitris Nikoloudis Bent Norgaard-Pedersen Devin Oglesbee Mariusz Oltarzewski Daniela Ombrone Jelili Ojodu Vagelis Papakonstantinou Sherly Pardo Reoyo Hyung-Doo Park Marzia Pasquali Elisabetta Pasquini Pallavi Patel Kenneth A Pass Colleen Peterson Rolf D Pettersen James J Pitt Sherry Poh Arnold Pollak Cory Porter Philip A Poston Ricky W Price Cecilia Queijo Jonessy Quesada Edward Randell Enzo Ranieri Kimiyo Raymond John E Reddic Alejandra Reuben Charla Ricciardi Piero Rinaldo Jeff D Rivera Alicia Roberts Hugo Rocha Geraldine Roche Cheryl Rochman Greenberg José María Egea Mellado María Jesús Juan-Fita Consuelo Ruiz Margherita Ruoppolo S Lane Rutledge Euijung Ryu Christine Saban Inderneel Sahai Maria Isabel Salazar García-Blanco Pedro Santiago-Borrero Andrea Schenone Roland Schoos Barb Schweitzer Patricia Scott Margretta R Seashore Mary A Seeterlin David E Sesser Darrin W Sevier Scott M Shone Graham Sinclair Victor A Skrinska Eleanor L Stanley Erin T Strovel April L Studinski Jones Sherlykutty Sunny Zoltan Takats Tijen Tanyalcin Francesca Teofoli J Robert Thompson Kathy Tomashitis Mouseline Torquado Domingos Jasmin Torres Rosario Torres Silvia Tortorelli Sandor Turi Kimberley Turner Nick Tzanakos Alf G Valiente Hillary Vallance Marcela Vela-Amieva Laura Vilarinho Ulrika von Döbeln Marie-Francoise Vincent B Chris Vorster Michael S Watson Dianne Webster Sheila Weiss Bridget Wilcken Veronica Wiley Sharon K Williams Sharon A Willis Michael Woontner Katherine Wright Raquel Yahyaoui Seiji Yamaguchi Melissa Yssel Wendy M Zakowicz

Genet Med 2011 Mar;13(3):230-54

Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31820d5e67DOI Listing
March 2011

Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?

Pediatr Nephrol 2008 Jan 26;23(1):163-8. Epub 2007 Sep 26.

Pediatrics, Meyer Hospital, Via Luca Giordano 13, Florence 50135, Italy.

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http://dx.doi.org/10.1007/s00467-007-0607-yDOI Listing
January 2008

Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples.

J Mass Spectrom 2006 Nov;41(11):1442-52

Meyer Children's Hospital, Metabolic Unit, Dept of Paediatrics, University of Florence, Via Luca Giordano 13, 50132, Florence, Italy.

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http://dx.doi.org/10.1002/jms.1115DOI Listing
November 2006

Barth syndrome presenting with acute metabolic decompensation in the neonatal period.

J Inherit Metab Dis 2006 Oct 12;29(5):684. Epub 2006 Aug 12.

Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, AOU-Meyer, Florence, Italy.

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http://dx.doi.org/10.1007/s10545-006-0388-7DOI Listing
October 2006

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.

Prenat Diagn 2005 Dec;25(12):1117-9

Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, Meyer Children's Hospital, Florence, Italy.

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http://dx.doi.org/10.1002/pd.1291DOI Listing
December 2005

The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient.

Pediatr Res 2003 Nov 6;54(5):635-40. Epub 2003 Aug 6.

Department of Paediatrics, University of Florence, 50132 Florence, Italy.

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http://dx.doi.org/10.1203/01.PDR.0000084113.41375.1EDOI Listing
November 2003