Marzia Pasquali

Marzia Pasquali

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Marzia Pasquali

Publications by authors named "Marzia Pasquali"

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Calciphylaxis: a conundrum for patients and nephrologists?

J Nephrol 2019 Aug 30. Epub 2019 Aug 30.

Policlinico Umberto 1 Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s40620-019-00639-6DOI Listing
August 2019

Clinical impact of vitamin D hydroxylation efficiency.

Minerva Med 2019 Jun 22;110(3):259-262. Epub 2019 Feb 22.

Unit of Nephrology, Umberto I Polyclinic Hospital, Rome, Italy.

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http://dx.doi.org/10.23736/S0026-4806.19.06029-4DOI Listing
June 2019

Direct bone effects of calcimimetics in chronic kidney disease?

Kidney Int 2019 May;95(5):1012-1014

Ospedale Universitario Policlinico Umberto I, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S00852538193027
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http://dx.doi.org/10.1016/j.kint.2019.01.045DOI Listing
May 2019

Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.

Mol Genet Metab 2019 05 16;127(1):64-73. Epub 2019 Apr 16.

Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.04.001DOI Listing
May 2019

Unusual Metabolites in a Patient with Isovaleric Acidemia.

Clin Chem 2019 Apr;65(4):595-597

Department of Pediatrics, University of Louisville, Louisville, KY.

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http://www.clinchem.org/lookup/doi/10.1373/clinchem.2018.300
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http://dx.doi.org/10.1373/clinchem.2018.300558DOI Listing
April 2019

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes.

Genet Med 2019 Apr 25. Epub 2019 Apr 25.

Department of Pediatrics, Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.

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http://dx.doi.org/10.1038/s41436-019-0522-1DOI Listing
April 2019

Bone, inflammation and the bone marrow niche in chronic kidney disease: what do we know?

Nephrol Dial Transplant 2018 12;33(12):2092-2100

Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, St Orsola Hospital, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1093/ndt/gfy115DOI Listing
December 2018

Effect of genotype on galactose-1-phosphate in classic galactosemia patients.

Mol Genet Metab 2018 11 23;125(3):258-265. Epub 2018 Aug 23.

Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183037
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http://dx.doi.org/10.1016/j.ymgme.2018.08.012DOI Listing
November 2018

CKD-MBD management: what is the role of parathyroidectomy? Results from a nationwide survey in Italy.

J Nephrol 2018 08 7;31(4):585-591. Epub 2018 Mar 7.

UOC di Nefrologia, Dialisi e Trapianto del GOM "BMM" di Reggio Calabria, Reggio Calabria, Italy.

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http://dx.doi.org/10.1007/s40620-018-0481-7DOI Listing
August 2018

Oxygen Extraction Ratio (OER) as a Measurement of Hemodialysis (HD) Induced Tissue Hypoxia: A Pilot Study.

Sci Rep 2018 04 4;8(1):5655. Epub 2018 Apr 4.

Nephrology and Dialysis Unit, ICOT Hospital, Polo Pontino Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1038/s41598-018-24024-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884820PMC
April 2018

Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.

J Inherit Metab Dis 2018 03 19;41(2):197-208. Epub 2018 Jan 19.

Department of Pathology, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/s10545-018-0136-9DOI Listing
March 2018

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.

Genet Med 2018 Jan 29;20(1):83-90. Epub 2017 Jun 29.

Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1038/gim.2017.61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763156PMC
January 2018

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 Jan 26;20(1):3-11. Epub 2017 Oct 26.

Myriad Genetics, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1038/gim.2017.172DOI Listing
January 2018

Functional and molecular studies in primary carnitine deficiency.

Hum Mutat 2017 12 14;38(12):1684-1699. Epub 2017 Sep 14.

Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/humu.23315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665702PMC
December 2017

[New biomarkers of CKD-MBD].

G Ital Nefrol 2016 Nov-Dec;33(6)

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October 2017

Positioning novel biologicals in CKD-mineral and bone disorders.

J Nephrol 2017 Oct 24;30(5):689-699. Epub 2017 May 24.

Department of Cardiovascular, Respiratory, Nephrologic, Anesthetic and Geriatric Sciences, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1007/s40620-017-0410-1DOI Listing
October 2017

Interactions of sclerostin with FGF23, soluble klotho and vitamin D in renal transplantation.

PLoS One 2017 30;12(5):e0178637. Epub 2017 May 30.

Department of Cardiovascular, Respiratory, Nephrologic, Anesthesiologic and Geriatric Sciences, Sapienza University of Rome, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178637PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448809PMC
October 2017

Anaplerotic therapy in propionic acidemia.

Mol Genet Metab 2017 09 12;122(1-2):51-59. Epub 2017 Jul 12.

Department of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612888PMC
September 2017

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H.

Sci Rep 2016 12 2;6:38305. Epub 2016 Dec 2.

Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN, USA.

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http://dx.doi.org/10.1038/srep38305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133554PMC
December 2016

Carnitine transport and fatty acid oxidation.

Biochim Biophys Acta 2016 10 29;1863(10):2422-35. Epub 2016 Jan 29.

Department of Pathology, University of Utah, and ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.bbamcr.2016.01.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967041PMC
October 2016

Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).

Curr Protoc Hum Genet 2016 10 11;91:17.25.1-17.25.12. Epub 2016 Oct 11.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/cphg.19DOI Listing
October 2016

Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy.

Mol Genet Metab 2016 07 8;118(3):167-72. Epub 2016 May 8.

Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA; Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.04.015DOI Listing
July 2016

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

J Dev Behav Pediatr 2016 05;37(4):322-6

*Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD; †Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD; ‡Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD; §Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT; ‖Associated Regional and University Pathologists (ARUP) Laboratories, Salt Lake City, UT; ¶Department of Pathology, University of Utah, Salt Lake City, UT; **Department of Clinical Chemistry, Metabolic Unit, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/DBP.0000000000000299DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907372PMC
May 2016

A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine.

J Chromatogr B Analyt Technol Biomed Life Sci 2016 Apr 3;1017-1018:145-152. Epub 2016 Mar 3.

Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.jchromb.2016.02.043DOI Listing
April 2016

Vitamin D: a dynamic molecule. How relevant might the dynamism for a vitamin be?

Nephrol Dial Transplant 2016 Jan 22;31(1):23-30. Epub 2015 Sep 22.

Department of Cardiovascular Respiratory Nephrologic Anesthetic and Geriatric Sciences, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1093/ndt/gfv340DOI Listing
January 2016

Where is the link between mineral bone markers and cardiovascular disease in CKD?

Clin Kidney J 2015 Dec 19;8(6):729-31. Epub 2015 Oct 19.

Unit of Nephrology and Dialysis , Policlinico Umberto I Hospital, Sapienza University of Rome , Rome , Italy.

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http://dx.doi.org/10.1093/ckj/sfv104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655806PMC
December 2015

Calcitriol/calcifediol ratio: An indicator of vitamin D hydroxylation efficiency?

BBA Clin 2015 Jun 14;3:251-6. Epub 2015 Mar 14.

Department of Cardiovascular, Respiratory, Nephrologic, Anesthesiologic and Geriatric Sciences, Sapienza University of Rome, Italy.

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http://dx.doi.org/10.1016/j.bbacli.2015.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4661572PMC
June 2015

Soluble α -Klotho Serum Levels in Chronic Kidney Disease.

Int J Endocrinol 2015 19;2015:872193. Epub 2015 Mar 19.

Department of Cardiovascular, Respiratory, Nephrology, Geriatric, and Anesthetic Sciences, "Sapienza" University, 5 Piazzale Aldo Moro, 00185 Rome, Italy.

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http://dx.doi.org/10.1155/2015/872193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383388PMC
April 2015

Biochemical abnormalities in Pearson syndrome.

Am J Med Genet A 2015 Mar;167A(3):621-8

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah; University of Milano, Milan, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.36939
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http://dx.doi.org/10.1002/ajmg.a.36939DOI Listing
March 2015

News on biomarkers in CKD-MBD.

Semin Nephrol 2014 Nov;34(6):598-611

Department of Cardiovascular, Respiratory, Nephrologic and Geriatric Sciences, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.semnephrol.2014.09.006DOI Listing
November 2014

Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.

J Inherit Metab Dis 2014 Mar 26;37(2):231-6. Epub 2013 Nov 26.

Department of Pathology, University of Utah, Salt Lake City, UT, 84108, USA,

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http://dx.doi.org/10.1007/s10545-013-9662-7DOI Listing
March 2014

Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.

Mol Genet Metab 2013 Nov 8;110(3):255-62. Epub 2013 Sep 8.

Department of Pediatrics, Division of Medical Genetics, University of Utah, 50 North Mario Capecchi Drive, 2C412 SOM, Salt Lake City, UT 84132, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.08.020DOI Listing
November 2013

The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

Biochem Biophys Res Commun 2013 Aug 16;437(4):637-41. Epub 2013 Jul 16.

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA.

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http://dx.doi.org/10.1016/j.bbrc.2013.07.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773513PMC
August 2013

Distinct impact of vitamin D insufficiency on calcitriol levels in chronic renal failure and renal transplant patients: a role for FGF23.

J Nephrol 2012 Nov-Dec;25(6):1108-18

Department of Cardiovascular, Respiratory, Nephrological and Geriatric Sciences, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.5301/jn.5000102DOI Listing
May 2013

Glutaric acidemia type 1: outcomes before and after expanded newborn screening.

Mol Genet Metab 2012 Aug 9;106(4):430-8. Epub 2012 Jun 9.

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.05.024DOI Listing
August 2012

Genotype-phenotype correlation in primary carnitine deficiency.

Hum Mutat 2012 Jan 11;33(1):118-23. Epub 2011 Oct 11.

Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/humu.21607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3240685PMC
January 2012

[Update on the pathogenesis and possible therapeutic approach to vascular calcifications in patients with chronic renal failure].

G Ital Nefrol 2011 Sep-Oct;28(5):514-24

Dipartimento di Scienze Cardiovascolari, Respiratorie, Nefrologiche e Geriatriche dell'Universita' Sapienza di Roma, Roma, Italy.

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January 2012

Treatment of cardiovascular calcification in uremia.

Curr Vasc Pharmacol 2011 Nov;9(6):741-9

Department of Cardiovascular, Respiratory, Nephrologic and Geriatric Sciences, University of Rome Sapienza, Policlinico Umberto I, Rome, Italy.

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November 2011

Does any therapy exist for vascular calcifications in uremia?

J Nephrol 2011 May-Jun;24 Suppl 18:S16-24

Department of Cardiovascular, Respiratory, Nephrologic and Geriatric Sciences, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.5301/JN.2011.7762DOI Listing
October 2011

Quantitative urine amino acid analysis using liquid chromatography tandem mass spectrometry and aTRAQ reagents.

J Chromatogr B Analyt Technol Biomed Life Sci 2011 Sep 30;879(26):2695-703. Epub 2011 Jul 30.

Department of Pathology, University of Utah, Salt Lake City, UT, United States.

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http://dx.doi.org/10.1016/j.jchromb.2011.07.030DOI Listing
September 2011

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

Disorders of creatine transport and metabolism.

Am J Med Genet C Semin Med Genet 2011 Feb 9;157C(1):72-8. Epub 2011 Feb 9.

Division of Medical Genetics, University of Utah, Salt Lake City, 84132, USA.

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http://dx.doi.org/10.1002/ajmg.c.30292DOI Listing
February 2011

Newborn screening and inborn errors of metabolism.

Am J Med Genet C Semin Med Genet 2011 Feb 10;157C(1):1-2. Epub 2011 Feb 10.

Biochemical Genetics and Newborn Screening Laboratories, Salt Lake City, UT 84108, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30290
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http://dx.doi.org/10.1002/ajmg.c.30290DOI Listing
February 2011

The bone and the kidney.

Arch Biochem Biophys 2010 Nov 3;503(1):95-102. Epub 2010 Jul 3.

Department of Clinical Science, Sapienza University of Rome, Italy.

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http://dx.doi.org/10.1016/j.abb.2010.06.028DOI Listing
November 2010

Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience.

Pediatr Res 2009 Aug;66(2):230-5

ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1203/PDR.0b013e3181aa3777DOI Listing
August 2009

Addition of formic acid improves acetonitrile extraction of dicarboxylic acylcarnitines.

Clin Chim Acta 2009 Jun 29;404(2):169-70. Epub 2009 Mar 29.

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http://dx.doi.org/10.1016/j.cca.2009.03.040DOI Listing
June 2009

Carcinogenic effects in a phenylketonuria mouse model.

PLoS One 2009 27;4(1):e4292. Epub 2009 Jan 27.

Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0004292PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2625399PMC
May 2009

Vitamin D receptor activators.

Int J Artif Organs 2009 Feb;32(2):101-7

Department of Clinical Science, Sapienza University of Rome and Chair of Nephrology, Sapienza University of Rome, Rome - Italy.

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February 2009

Progressive cerebral vascular degeneration with mitochondrial encephalopathy.

Am J Med Genet A 2008 Feb;146A(3):361-7

Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31841
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http://dx.doi.org/10.1002/ajmg.a.31841DOI Listing
February 2008

Expanded newborn screening identifies maternal primary carnitine deficiency.

Mol Genet Metab 2007 Apr 28;90(4):441-5. Epub 2006 Nov 28.

University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.10.003DOI Listing
April 2007

Serum levels of calcification inhibition proteins and coronary artery calcium score: comparison between transplantation and dialysis.

Am J Nephrol 2007 26;27(1):75-83. Epub 2007 Jan 26.

Division of Nephrology, Department of Clinical Science, University of Rome La Sapienza, Rome, Italy.

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http://dx.doi.org/10.1159/000099095DOI Listing
April 2007

Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

Mol Genet Metab 2006 Jun 10;88(2):123-30. Epub 2006 Jan 10.

Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.11.016DOI Listing
June 2006

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

Hum Mutat 2006 Jun;27(6):513-23

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/humu.20314DOI Listing
June 2006

Biochemical findings in common inborn errors of metabolism.

Am J Med Genet C Semin Med Genet 2006 May;142C(2):64-76

University of Utah, and ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1002/ajmg.c.30086DOI Listing
May 2006

Glutaric acidemia type 1.

Am J Med Genet C Semin Med Genet 2006 May;142C(2):86-94

Radiology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30088
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http://dx.doi.org/10.1002/ajmg.c.30088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2556991PMC
May 2006

Disorders of carnitine transport and the carnitine cycle.

Am J Med Genet C Semin Med Genet 2006 May;142C(2):77-85

Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30087
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http://dx.doi.org/10.1002/ajmg.c.30087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2557099PMC
May 2006

Acidified acetonitrile and methanol extractions for quantitative analysis of acylcarnitines in plasma by stable isotope dilution tandem mass spectrometry.

J Chromatogr B Analyt Technol Biomed Life Sci 2005 Dec 3;827(2):193-8. Epub 2005 Oct 3.

ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1016/j.jchromb.2005.09.004DOI Listing
December 2005

Analysis of plasma amino acids by HPLC with photodiode array and fluorescence detection.

Clin Chim Acta 2005 Apr 25;354(1-2):83-90. Epub 2004 Dec 25.

ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratory, Salt Lake City, Utah 84108, USA.

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http://webpages.icav.up.pt/ptdc/CVT-NUT/4294/2012/Schwarz%20
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http://linkinghub.elsevier.com/retrieve/pii/S000989810400555
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http://dx.doi.org/10.1016/j.cccn.2004.11.016DOI Listing
April 2005

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.

Genet Med 2004 Mar-Apr;6(2):90-5

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.109701.GIM.0000117334.84388.F4DOI Listing
October 2004

Interaction between altered insulin and lipid metabolism in CEACAM1-inactive transgenic mice.

J Biol Chem 2004 Oct 16;279(43):45155-61. Epub 2004 Aug 16.

Departments of Pharmacology and Therapeutics, Medical College of Ohio, Toledo, Ohio 43614, USA.

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http://dx.doi.org/10.1074/jbc.M404764200DOI Listing
October 2004

Solid phase extraction procedure for urinary organic acid analysis by gas chromatography mass spectrometry.

J Chromatogr B Analyt Technol Biomed Life Sci 2004 Jul;806(2):283-7

ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

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July 2004

Ionised and total serum magnesium in renal transplant patients.

J Nephrol 2002 May-Jun;15(3):275-80

Department of Clinical Science, University La Sapienza, Rome, Italy.

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January 2003

Serum acylcarnitines and vitamin B12 deficiency.

Clin Chem 2002 Jul;48(7):1126-8

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.

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July 2002