Christiane Auray-Blais

Christiane Auray-Blais

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Christiane Auray-Blais

Christiane Auray-Blais

Publications by authors named "Christiane Auray-Blais"

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Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS.

Diagnostics (Basel) 2019 Nov 18;9(4). Epub 2019 Nov 18.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine & Health Sciences, Université de Sherbrooke, CIUSSS de l'Estrie-CHUS, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada.

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http://dx.doi.org/10.3390/diagnostics9040195DOI Listing
November 2019

High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients.

Clin Chim Acta 2019 Nov 26. Epub 2019 Nov 26.

CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, 3001, 12(th) Avenue North, Sherbrooke J1H 5N4, QC, Canada.

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http://dx.doi.org/10.1016/j.cca.2019.10.045DOI Listing
November 2019

The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.

Clin Chim Acta 2019 Oct 22. Epub 2019 Oct 22.

University Hospitals of Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981193206
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http://dx.doi.org/10.1016/j.cca.2019.10.005DOI Listing
October 2019

Tandem mass spectrometry analysis of urinary podocalyxin and podocin in the investigation of podocyturia in women with preeclampsia and Fabry disease patients.

Clin Chim Acta 2019 Aug 19;495:67-75. Epub 2019 Mar 19.

Division of Medical Genetics, Department of Pediatrics, Université de Sherbrooke, Centre de recherche-CHUS, 3001, 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2019.03.1615DOI Listing
August 2019

Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy.

J Med Genet 2019 Aug 22;56(8):548-556. Epub 2019 Apr 22.

Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Muenster, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2019-106005DOI Listing
August 2019

Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS.

Bioanalysis 2019 Apr 17;11(8):727-740. Epub 2019 Apr 17.

Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine & Health Sciences, Université de Sherbrooke, CR-CHUS, Hospital Fleurimont, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada.

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http://dx.doi.org/10.4155/bio-2018-0306DOI Listing
April 2019

UPLC–MS/MS analysis of keratan sulfate from urine samples collected on filter paper for monitoring & follow-up of Morquio A patients

Bioanalysis 2018 08 30;10(15):1181-1192. Epub 2018 Jul 30.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine & Health Sciences, Centre de Recherche - CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, Canada J1H 5N4.

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https://www.future-science.com/doi/10.4155/bio-2018-0064
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http://dx.doi.org/10.4155/bio-2018-0064DOI Listing
August 2018

Analysis of globotriaosylceramide (Gb) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high performance liquid chromatography/tandem mass spectrometry.

Anal Chim Acta 2018 Jul 19;1015:35-49. Epub 2018 Feb 19.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, CR-CHUS, Hospital Fleurimont, 3,001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.aca.2018.02.022DOI Listing
July 2018

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

J Inherit Metab Dis 2018 05 19;41(3):457-477. Epub 2018 Mar 19.

Unité Maladies Héréditaires du Métabolisme, Service de Biochimie et Biologie Moléculaire Grand Est, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.

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http://dx.doi.org/10.1007/s10545-017-0126-3DOI Listing
May 2018

Globotriaosylsphingosine (Lyso-Gb) as a biomarker for cardiac variant (N215S) Fabry disease.

J Inherit Metab Dis 2018 03 2;41(2):239-247. Epub 2018 Jan 2.

University Hospitals of Birmingham NHS Foundation Trust, B15 2TH, Birmingham, UK.

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http://doi.wiley.com/10.1007/s10545-017-0127-2
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http://dx.doi.org/10.1007/s10545-017-0127-2DOI Listing
March 2018

The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein.

Neurobiol Dis 2018 02 2;110:68-81. Epub 2017 Dec 2.

Dept. Pathology, University of Alabama at Birmingham, Birmingham, AL, United States; Dept. Pharmacology & Toxicology, University of Alabama at Birmingham, Birmingham, AL, United States; Birmingham VA Medical Center, Birmingham, AL, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5747987PMC
February 2018

Separation and Analysis of Lactosylceramide, Galabiosylceramide, and Globotriaosylceramide by LC-MS/MS in Urine of Fabry Disease Patients.

Anal Chem 2017 12 27;89(24):13382-13390. Epub 2017 Nov 27.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke , 3001 12th Avenue North, Sherbrooke, Quebec, Canada J1H 5N4.

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http://dx.doi.org/10.1021/acs.analchem.7b03609DOI Listing
December 2017

High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb ) in Urine Collected on Filter Paper.

Curr Protoc Hum Genet 2017 04 6;93:17.26.1-17.26.12. Epub 2017 Apr 6.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

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http://doi.wiley.com/10.1002/cphg.34
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http://dx.doi.org/10.1002/cphg.34DOI Listing
April 2017

Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.

Clin Chim Acta 2017 Mar 18;466:185-193. Epub 2017 Jan 18.

Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan, ROC.

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http://dx.doi.org/10.1016/j.cca.2017.01.018DOI Listing
March 2017

Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.

Future Sci OA 2016 Dec 13;2(4):FSO147. Epub 2016 Oct 13.

University Health Network, Toronto, Ontario, M5G 1L7, Canada; Department of Medical Biophysics, Institute of Medical Sciences, University of Toronto, Toronto, Ontario, M5S 1A8, Canada; University Health Network, Toronto, Ontario, M5G 1L7, Canada; Department of Medical Biophysics, Institute of Medical Sciences, University of Toronto, Toronto, Ontario, M5S 1A8, Canada.

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http://dx.doi.org/10.4155/fsoa-2016-0027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242178PMC
December 2016

High-Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non-Methylated Gb Isoforms Using Tandem Mass Spectrometry.

Curr Protoc Hum Genet 2016 10 11;91:17.24.1-17.24.11. Epub 2016 Oct 11.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Centre de Recherche-CHUS, Sherbrooke, Quebec, Canada.

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http://dx.doi.org/10.1002/cphg.24DOI Listing
October 2016

Relative distribution of Gb3 isoforms/analogs in NOD/SCID/Fabry mice tissues determined by tandem mass spectrometry.

Bioanalysis 2016 Sep 15;8(17):1793-807. Epub 2016 Aug 15.

Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine & Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4 Canada.

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http://dx.doi.org/10.4155/bio-2016-0116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992964PMC
September 2016

UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses.

Anal Chim Acta 2016 Sep 2;936:139-48. Epub 2016 Jul 2.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.aca.2016.06.054DOI Listing
September 2016

Maternal inhaled fluticasone propionate intake during pregnancy is detected in neonatal cord blood.

Bioanalysis 2016 07 28;8(14):1441-1450. Epub 2016 Jun 28.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

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http://dx.doi.org/10.4155/bio-2016-0065DOI Listing
July 2016

Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry.

Curr Protoc Hum Genet 2016 07 1;90:17.22.1-17.22.12. Epub 2016 Jul 1.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

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http://dx.doi.org/10.1002/cphg.1DOI Listing
July 2016

Tandem Mass Spectrometry Quantitation of Lyso-Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients.

Curr Protoc Hum Genet 2016 07 1;90:17.23.1-17.23.9. Epub 2016 Jul 1.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

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http://dx.doi.org/10.1002/cphg.4DOI Listing
July 2016

Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease.

Anal Chem 2016 Feb 21;88(3):1856-63. Epub 2016 Jan 21.

Division of Medical Genetics, Department of Pediatrics, Centre de Recherche-CHUS, Faculty of Medicine and Health Sciences, Université de Sherbrooke , 3001, 12th Avenue North, Sherbrooke, Quebec, Canada , J1H 5N4.

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http://dx.doi.org/10.1021/acs.analchem.5b04227DOI Listing
February 2016

Evaluation of urinary keratan sulfate disaccharides in MPS IVA patients using UPLC-MS/MS.

Bioanalysis 2016 Feb 25;8(3):179-91. Epub 2016 Jan 25.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine & Health Sciences, Centre de recherche - CHUS, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, J1H 5N4, Canada.

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http://dx.doi.org/10.4155/bio.15.239DOI Listing
February 2016

Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients.

Clin Chim Acta 2016 Jan 22;452:191-8. Epub 2015 Nov 22.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Quebec J1H 5N4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2015.11.018DOI Listing
January 2016

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

Clin Chim Acta 2015 Jul 9;447:96-104. Epub 2015 Jun 9.

Department of Genetics, Faculty of Medicine, University of Porto, Alameda Hernâni Monteiro, 4200-319 Porto, Portugal; Medical Genetics Outpatient Clinic, São João Hospital Centre, Alameda Hernâni Monteiro, 4200-319 Porto, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981150028
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http://dx.doi.org/10.1016/j.cca.2015.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793778PMC
July 2015

Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers.

J Am Soc Mass Spectrom 2015 Mar 13;26(3):499-510. Epub 2015 Jan 13.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001 12th Avenue North, Quebec, J1H 5N4, Canada.

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http://dx.doi.org/10.1007/s13361-014-1060-3DOI Listing
March 2015

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

Clin Chim Acta 2015 Jan 19;438:195-204. Epub 2014 Aug 19.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre hospitalier universitaire de Sherbrooke, 3001, 12(th) Avenue North, Sherbrooke, QCJ1H 5N4, Canada.

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http://dx.doi.org/10.1016/j.cca.2014.08.002DOI Listing
January 2015

Glycation of fetal hemoglobin reflects hyperglycemia exposure in utero.

Diabetes Care 2014 Oct 10;37(10):2830-3. Epub 2014 Jul 10.

Centre de Recherche du Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, QC, Canada Endocrine Division, Université de Sherbrooke, Sherbrooke, QC, Canada

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http://dx.doi.org/10.2337/dc14-0549DOI Listing
October 2014

High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.

Clin Chim Acta 2014 Sep 6;436:249-55. Epub 2014 Jun 6.

Service of Genetics, Dept. of Pediatrics, Faculty of Medicine and Health Sciences, 3001, 12th Avenue North, Université de Sherbrooke, Sherbrooke J1H 5N4, QC Canada.

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http://dx.doi.org/10.1016/j.cca.2014.05.024DOI Listing
September 2014

Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb₃-related analogues in Fabry disease.

Anal Chem 2014 Apr 17;86(7):3476-83. Epub 2014 Mar 17.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke , 3001 12th Avenue North, Sherbrooke, Québec J1H 5N4, Canada.

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http://dx.doi.org/10.1021/ac404000dDOI Listing
April 2014

A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients.

Anal Chem 2013 Oct 11;85(19):9039-48. Epub 2013 Sep 11.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke , 3001, 12th Avenue North, Sherbrooke , Quebec, Canada J1H 5N4.

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http://dx.doi.org/10.1021/ac401542kDOI Listing
October 2013

Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for Fabry disease by tandem mass spectrometry.

Anal Chem 2013 Feb 7;85(3):1743-52. Epub 2013 Jan 7.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001 12th Avenue North, Sherbrooke (Québec), Canada J1H 5N4.

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http://pubs.acs.org/doi/10.1021/ac303033v
Publisher Site
http://dx.doi.org/10.1021/ac303033vDOI Listing
February 2013

LC-MS/MS analysis of plasma lyso-Gb3 in Fabry disease.

Clin Chim Acta 2012 Dec 2;414:273-80. Epub 2012 Oct 2.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

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http://dx.doi.org/10.1016/j.cca.2012.09.026DOI Listing
December 2012

An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper.

Clin Chim Acta 2012 Apr 20;413(7-8):771-8. Epub 2012 Jan 20.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.

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http://dx.doi.org/10.1016/j.cca.2012.01.012DOI Listing
April 2012

Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics.

Anal Chem 2012 Mar 28;84(6):2745-53. Epub 2012 Feb 28.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Québec, Canada.

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http://dx.doi.org/10.1021/ac203433eDOI Listing
March 2012

Determination of glycated and acetylated hemoglobins in cord blood by time-of-flight mass spectrometry.

Anal Chem 2011 Jul 9;83(13):5245-52. Epub 2011 Jun 9.

Department of Physiology and Biophysics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke (Québec), Canada J1H 5N4.

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http://dx.doi.org/10.1021/ac200555vDOI 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

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.

Mol Genet Metab 2011 Jan 17;102(1):49-56. Epub 2010 Sep 17.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Quebec, Canada J1H 5N4.

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http://dx.doi.org/10.1016/j.ymgme.2010.09.003DOI Listing
January 2011

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Clin Chim Acta 2010 Dec 14;411(23-24):1906-14. Epub 2010 Aug 14.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada.

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http://dx.doi.org/10.1016/j.cca.2010.07.038DOI Listing
December 2010

Biomarkers of Fabry disease nephropathy.

Clin J Am Soc Nephrol 2010 Feb 5;5(2):360-4. Epub 2009 Nov 5.

Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas 75226, USA.

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http://dx.doi.org/10.2215/CJN.06090809DOI Listing
February 2010

Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months.

Mol Genet Metab 2009 Aug 3;97(4):278-83. Epub 2009 May 3.

Division of Genetics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Que., Canada J1H 5N4.

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http://dx.doi.org/10.1016/j.ymgme.2009.04.009DOI Listing
August 2009

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.

J Clin Invest 2008 Dec 6;118(12):3881-92. Epub 2008 Nov 6.

School of Biochemistry and Molecular Biology, Australian National University, Canberra, Australian Capital Territory, Australia.

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http://dx.doi.org/10.1172/JCI36625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579706PMC
December 2008

Further evidence for allelic heterogeneity in Hartnup disorder.

Hum Mutat 2008 Oct;29(10):1217-21

Medical Genetics Research Unit, Australian National University (ANU) Medical School, Canberra, Australian Capital Territory (ACT), Australia.

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http://dx.doi.org/10.1002/humu.20777DOI Listing
October 2008

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Mol Genet Metab 2008 Mar 26;93(3):331-40. Epub 2007 Nov 26.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Que., Canada J1H 5N4.

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http://dx.doi.org/10.1016/j.ymgme.2007.10.001DOI Listing
March 2008

Persistence of the common Hartnup disease D173N allele in populations of European origin.

Ann Hum Genet 2007 Nov 7;71(Pt 6):755-61. Epub 2007 Jun 7.

Medical Genetics Research Unit, ANU Medical School, Canberra, Australia.

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http://dx.doi.org/10.1111/j.1469-1809.2007.00375.xDOI Listing
November 2007

Biobanking primer: down to basics.

Science 2007 May;316(5826):830

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http://dx.doi.org/10.1126/science.316.5826.830DOI Listing
May 2007

A biobank management model applicable to biomedical research.

BMC Med Ethics 2006 Apr 6;7:E4. Epub 2006 Apr 6.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Qc, J1H 5N4, Canada.

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http://dx.doi.org/10.1186/1472-6939-7-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1475589PMC
April 2006