Publications by authors named "Piero Rinaldo"

94Publications

The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California.

Int J Neonatal Screen 2020 Aug 5;6(3). Epub 2020 Aug 5.

Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA.

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http://dx.doi.org/10.3390/ijns6030062DOI Listing
August 2020

The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California.

Int J Neonatal Screen 2020 Sep 5;6(3):62. Epub 2020 Aug 5.

Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA; (J.M.); (S.S.).

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http://dx.doi.org/10.3390/ijns6030062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7570356PMC
September 2020

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism.

Int J Neonatal Screen 2020 Jun 10;6(2):33. Epub 2020 Apr 10.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; (A.L.P.); (G.P.); (C.T.); (D.M.); (D.O.); (K.R.); (S.T.); (P.R.).

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http://dx.doi.org/10.3390/ijns6020033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423003PMC
June 2020

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Int J Neonatal Screen 2020 Mar 7;6(1):10. Epub 2020 Feb 7.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; (J.M.L.); (A.L.W.); (G.P.); (A.L.S.); (D.G.); (D.O.); (K.R.); (D.M.); (P.R.).

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http://dx.doi.org/10.3390/ijns6010010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422968PMC
March 2020

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency.

Orphanet J Rare Dis 2020 09 23;15(1):261. Epub 2020 Sep 23.

Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences Building Room 210C, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA.

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http://dx.doi.org/10.1186/s13023-020-01522-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510106PMC
September 2020

Does metabolomic profile differ with regard to birth weight?

Pediatr Res 2020 Jun 29. Epub 2020 Jun 29.

Faculty of Pharmaceutical Sciences, School of Health Science, Univeristy of Iceland, Reykjavik, Iceland.

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http://dx.doi.org/10.1038/s41390-020-1033-0DOI Listing
June 2020

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Mol Genet Metab 2020 08 6;130(4):247-254. Epub 2020 Jun 6.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.06.001DOI Listing
August 2020

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.

JIMD Rep 2020 May 26;53(1):29-38. Epub 2020 Feb 26.

Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences Washington State University Spokane Washington.

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http://dx.doi.org/10.1002/jmd2.12075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203655PMC
May 2020

Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.

Metab Brain Dis 2020 06;35(5):849-850

Department of Pharmacotherapy, Health Sciences Building Room, 210C, College of Pharmacy and Pharmaceutical Sciences, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA.

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http://dx.doi.org/10.1007/s11011-020-00569-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228844PMC
June 2020

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.

Metab Brain Dis 2020 04 14;35(4):601-614. Epub 2020 Mar 14.

Department of Pharmacotherapy, Health Sciences Building Room 210C, College of Pharmacy and Pharmaceutical Sciences, Washington State University, 412 E. Spokane Falls Boulevard, Spokane, WA, 99202-2131, USA.

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http://dx.doi.org/10.1007/s11011-020-00550-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7180121PMC
April 2020

Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1 mice, a model of succinic semialdehyde dehydrogenase deficiency.

Mol Genet Metab 2019 12 31;128(4):397-408. Epub 2019 Oct 31.

Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.10.003DOI Listing
December 2019

Cold storage of porcine hepatocyte spheroids for spheroid bioartificial liver.

Xenotransplantation 2019 07 10;26(4):e12512. Epub 2019 Apr 10.

Department of Surgery, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1111/xen.12512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717030PMC
July 2019

Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.

Mol Genet Metab 2018 06 20;124(2):109-113. Epub 2018 Apr 20.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183008
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http://dx.doi.org/10.1016/j.ymgme.2018.04.006DOI Listing
June 2018

Precision newborn screening for lysosomal disorders.

Genet Med 2018 08 9;20(8):847-854. Epub 2017 Nov 9.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2017.194DOI Listing
August 2018

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.

Genet Med 2018 08 2;20(8):840-846. Epub 2017 Nov 2.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2017.190DOI Listing
August 2018

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

J Mol Diagn 2017 09;19(5):755-765

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota; Department of Clinical Genomics, Mayo Clinic College of Medicine, Rochester, Minnesota. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173016
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http://dx.doi.org/10.1016/j.jmoldx.2017.05.011DOI Listing
September 2017

Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1.

Am J Pathol 2017 Jan 14;187(1):33-41. Epub 2016 Nov 14.

William J. von Liebig Center for Transplantation and Clinical Regeneration, Mayo Clinic, Rochester, Minnesota; Department of Surgery, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2016.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225308PMC
January 2017

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

Clin Chem 2016 09 20;62(9):1248-54. Epub 2016 Jul 20.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1373/clinchem.2016.256255DOI Listing
September 2016

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.

J Forensic Sci 2015 Jul;60(4):1101-3

University of Kentucky, Department of Pathology and Laboratory Medicine, Office of the Associate Chief Medical Examiner of the Commonwealth of Kentucky, Lexington, KY.

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http://dx.doi.org/10.1111/1556-4029.12808DOI Listing
July 2015

Newborn screening for lysosomal storage disorders.

Semin Perinatol 2015 Apr 16;39(3):206-16. Epub 2015 Apr 16.

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

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https://www.nbstrn.org/sites/default/files/Matern.pdf
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http://www.centogene.com/uploads/media/Wittmann__J_newborn_s
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http://linkinghub.elsevier.com/retrieve/pii/S014600051500022
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http://dx.doi.org/10.1053/j.semperi.2015.03.005DOI Listing
April 2015

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

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.

Genet Med 2014 Dec 29;16(12):889-95. Epub 2014 May 29.

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

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http://dx.doi.org/10.1038/gim.2014.62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262759PMC
December 2014

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.

Mol Genet Metab 2013 Sep-Oct;110(1-2):176-8. Epub 2013 Apr 10.

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

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http://dx.doi.org/10.1016/j.ymgme.2013.04.004DOI Listing
March 2014

Cold storage of rat hepatocyte spheroids.

Cell Transplant 2014 5;23(7):819-30. Epub 2013 Mar 5.

Division of Experimental Surgery, Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.3727/096368913X664847DOI Listing
January 2015

The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

JIMD Rep 2012 24;6:95-9. Epub 2012 Feb 24.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, 85090, 3508, Utrecht, The Netherlands,

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http://dx.doi.org/10.1007/8904_2011_122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565682PMC
February 2013

Hepatocyte-like cells differentiated from human induced pluripotent stem cells: relevance to cellular therapies.

Stem Cell Res 2012 Nov 28;9(3):196-207. Epub 2012 Jun 28.

Division of Experimental Surgery, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.scr.2012.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3619384PMC
November 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

Newborn screening for metabolic disorders: how are we doing, and where are we going?

Clin Chem 2012 Feb 24;58(2):324-31. Epub 2011 Aug 24.

Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1373/clinchem.2011.171215DOI Listing
February 2012

A disservice to advances in newborn genetic screening: comment on Timmermans and Buchbinder.

J Health Soc Behav 2011 Jun;52(2):277-8; authors reply 279-81

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http://dx.doi.org/10.1177/0022146511411435DOI Listing
June 2011

Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.

Pediatrics 2011 Jul 13;128(1):e246-50. Epub 2011 Jun 13.

Department of Pediatrics, University of Minnesota Medical School, MMC 8404 13-124 PWB, 516 Delaware St SE, Minneapolis, MN 55455, USA.

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http://dx.doi.org/10.1542/peds.2010-3918DOI Listing
July 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

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

Mol Genet Metab 2010 Jul 8;100(3):241-50. Epub 2010 Apr 8.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.04.001DOI Listing
July 2010

Homogentisic acid interference in routine urine creatinine determination.

Mol Genet Metab 2010 May 21;100(1):103-4. Epub 2010 Jan 21.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.01.006DOI Listing
May 2010

Improving newborn screening laboratory test ordering and result reporting using health information exchange.

J Am Med Inform Assoc 2010 Jan-Feb;17(1):13-8

Children's Health Services Research Program, Indiana University School of Medicine, Indianapolis, Indiana 46202-5140, USA.

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https://academic.oup.com/jamia/article-lookup/doi/10.1197/ja
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http://dx.doi.org/10.1197/jamia.M3295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995628PMC
April 2010

Gene expression and functional analyses of primary rat hepatocytes on nanofiber matrices.

Cells Tissues Organs 2010 1;191(2):129-40. Epub 2009 Jun 1.

Department of Biomedical Engineering, Physiology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1159/000223235DOI Listing
March 2010

Newborn screening of metabolic disorders: recent progress and future developments.

Nestle Nutr Workshop Ser Pediatr Program 2008 ;62:81-93; discussion 93-6

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

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http://dx.doi.org/10.1159/000146253DOI Listing
November 2008

Acylcarnitine profile analysis.

Genet Med 2008 Feb;10(2):151-6

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181614289DOI Listing
February 2008

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

Clin Chem 2008 Apr 15;54(4):657-64. Epub 2008 Feb 15.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1373/clinchem.2007.101949DOI Listing
April 2008

Committee Report: advancing the current recommended panel of conditions for newborn screening.

Genet Med 2007 Nov;9(11):792-6

Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.

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http://dx.doi.org/10.1097/gim.0b013e318159a38eDOI Listing
November 2007

Making the case for objective performance metrics in newborn screening by tandem mass spectrometry.

Ment Retard Dev Disabil Res Rev 2006 ;12(4):255-61

Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1002/mrdd.20130DOI Listing
March 2007

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

Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.

Mol Genet Metab 2006 Sep-Oct;89(1-2):134-8. Epub 2006 Apr 27.

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

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http://dx.doi.org/10.1016/j.ymgme.2006.03.008DOI Listing
October 2006

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Mol Genet Metab 2006 May 31;88(1):16-21. Epub 2006 Jan 31.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.12.005DOI Listing
May 2006

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

Mol Genet Metab 2005 Sep-Oct;86(1-2):160-71

Department of Human Genetics, McGill University, Montreal, Que., Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500232
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http://dx.doi.org/10.1016/j.ymgme.2005.07.018DOI Listing
January 2006

Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.

Clin Chem 2005 Nov 1;51(11):2110-6. Epub 2005 Sep 1.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1373/clinchem.2005.050146DOI Listing
November 2005

Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice.

PLoS Genet 2005 Aug 19;1(2):e23. Epub 2005 Aug 19.

Department of Genetics, University of Alabama, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1371/journal.pgen.0010023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1189074PMC
August 2005

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.

Genet Med 2005 May-Jun;7(5):339-43

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/01.gim.0000164548.54482.9dDOI Listing
August 2005

Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance.

Gastroenterology 2005 May;128(5):1381-90

Division of Gastroenterology, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157, USA.

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http://dx.doi.org/10.1053/j.gastro.2005.02.001DOI Listing
May 2005

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.

Mol Genet Metab 2005 May 16;85(1):7-11. Epub 2005 Feb 16.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.09.006DOI Listing
May 2005

Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation.

Mol Genet Metab 2004 Dec;83(4):322-9

Department of Genetics, 720 20th Street South, Kaul Human Genetics Building 620A, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.08.010DOI Listing
December 2004

Recent developments and new applications of tandem mass spectrometry in newborn screening.

Curr Opin Pediatr 2004 Aug;16(4):427-33

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1097/01.mop.0000133635.79661.84DOI Listing
August 2004

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Am J Hum Genet 2004 Feb 19;74(2):239-52. Epub 2004 Jan 19.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181922PMC
http://dx.doi.org/10.1086/381653DOI Listing
February 2004

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Mol Genet Metab 2003 Jun;79(2):114-23

Departments of Pediatrics and Molecular and Medical Genetics, Oregon Health and Science University (OHSU), Mail code CDRC-F, P.O. Box 574, Portland, OR 97207-0574, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813192PMC
http://dx.doi.org/10.1016/s1096-7192(03)00073-8DOI Listing
June 2003

Liquid chromatography-tandem mass spectrometry method for the determination of vanillylmandelic acid in urine.

Clin Chem 2003 May;49(5):825-6

Department of Laboratory Medicine & Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1373/49.5.825DOI Listing
May 2003

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.

Mol Genet Metab 2003 Apr;78(4):239-46

Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/s1096-7192(03)00034-9DOI Listing
April 2003

Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group.

J Child Neurol 2002 Dec;17 Suppl 3:3S98-102

Department of Pediatrics, Oregon Health and Science University, Portland, OR 97225, USA.

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December 2002

Liquid chromatographic-tandem mass spectrometric method for the determination of 5-hydroxyindole-3-acetic acid in urine.

Clin Chem 2002 Nov;48(11):2049-51

Biochemical Genetics Laboratory, Department of Laboratory Medicine & Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA.

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November 2002

Fatty acid oxidation disorders.

Annu Rev Physiol 2002 ;64:477-502

Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Biochemical Genetics Laboratory, Rochester, Minnesota 55905, USA.

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http://www.annualreviews.org/doi/10.1146/annurev.physiol.64.
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http://dx.doi.org/10.1146/annurev.physiol.64.082201.154705DOI Listing
May 2002