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Publications Authored by Desiree E Smith | PubFacts
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Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 Mar 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007098DOI Listing
March 2019

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Am J Hum Genet 2018 04 22;102(4):676-684. Epub 2018 Mar 22.

Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985283PMC
April 2018

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

Hum Mol Genet 2015 Dec 12;24(25):7339-48. Epub 2015 Oct 12.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam 1081 HV, The Netherlands and

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http://dx.doi.org/10.1093/hmg/ddv431DOI Listing
December 2015

Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

Hum Mutat 2014 Oct 31;35(10):1195-202. Epub 2014 Jul 31.

Metabolism and Genetics Group, Research Institute for Medicines, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal; Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22616DOI Listing
October 2014

Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.

Biochim Biophys Acta 2014 Jun 20;1840(6):2070-9. Epub 2014 Feb 20.

Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands; Neuroscience Campus, VU University Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2014.02.012DOI Listing
June 2014

Hyperhomocysteinemia in Alzheimer's disease: the hen and the egg?

J Alzheimers Dis 2013 ;33(4):1097-104

Department of Neurology, University Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.3233/JAD-2012-121378DOI Listing
October 2013

Folic acid supplementation does not reduce intracellular homocysteine, and may disturb intracellular one-carbon metabolism.

Clin Chem Lab Med 2013 Aug;51(8):1643-50

Department Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1515/cclm-2012-0694DOI Listing
August 2013

Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers.

Clin Chem Lab Med 2013 Mar;51(3):683-92

Biochemistry-Hormonology Laboratory, Robert Debré Hospital, 48 Boulevard Serurier, 75019 Paris, France.

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http://dx.doi.org/10.1515/cclm-2012-0302DOI Listing
March 2013

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.

J Chromatogr B Analyt Technol Biomed Life Sci 2012 Dec 3;911:186-91. Epub 2012 Nov 3.

Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S15700232120065
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http://dx.doi.org/10.1016/j.jchromb.2012.10.041DOI Listing
December 2012

Simultaneous determination of asymmetric and symmetric dimethylarginine, L-monomethylarginine, L-arginine, and L-homoarginine in biological samples using stable isotope dilution liquid chromatography tandem mass spectrometry.

J Chromatogr B Analyt Technol Biomed Life Sci 2012 Jul 26;900:38-47. Epub 2012 May 26.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jchromb.2012.05.025DOI Listing
July 2012

Determinants of the essential one-carbon metabolism metabolites, homocysteine, S-adenosylmethionine, S-adenosylhomocysteine and folate, in cerebrospinal fluid.

Clin Chem Lab Med 2012 Mar 24;50(9):1641-7. Epub 2012 Mar 24.

Department of Clinical Chemistry, Metabolic Laboratory, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1515/cclm-2012-0056DOI Listing
March 2012

Red blood cell folate vitamer distribution in healthy subjects is determined by the methylenetetrahydrofolate reductase C677T polymorphism and by the total folate status.

J Nutr Biochem 2007 Oct 5;18(10):693-9. Epub 2007 Apr 5.

Department of Internal Medicine and Institute for Cardiovascular Research ICaR-VU, VU University Medical Center, Amsterdam 1007 MB, The Netherlands.

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http://dx.doi.org/10.1016/j.jnutbio.2006.11.010DOI Listing
October 2007

Quantitative determination of erythrocyte folate vitamer distribution by liquid chromatography-tandem mass spectrometry.

Clin Chem Lab Med 2006 ;44(4):450-9

Department of Clinical Chemistry, ICaR-VU, VU University Medical Center, Amsterdam, The Netherlands.

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https://pdfs.semanticscholar.org/65dc/7fa7fc02e897e6ba28147f
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http://dx.doi.org/10.1515/CCLM.2006.085DOI Listing
June 2006

Arginine and mixed amino acids increase protein accretion in the growth-restricted and normal ovine fetus by different mechanisms.

Pediatr Res 2005 Aug 8;58(2):270-7. Epub 2005 Jul 8.

The Liggins Institute, Faculty of Medicine and Health Science, University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1203/01.PDR.0000169977.48609.55DOI Listing
August 2005

Homocysteine clearance and methylation flux rates in health and end-stage renal disease: association with S-adenosylhomocysteine.

Am J Physiol Renal Physiol 2004 Aug;287(2):F215-23

Department of Internal Medicine, and Institute for Cardiovascular Research, Vrije Universiteit Medical Center, 1081 HV Amsterdam, The Netherlands .

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http://dx.doi.org/10.1152/ajprenal.00376.2003DOI Listing
August 2004