Publications by authors named "Christine Vianey-Saban"

69Publications

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Mol Genet Metab Rep 2020 Jun 1;23:100583. Epub 2020 May 1.

Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380 Garches, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2020.100583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200937PMC
June 2020

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Mol Genet Metab Rep 2019 Dec 1;21:100509. Epub 2019 Nov 1.

Service de Biochimie & Biologie Moléculaire, UF Maladies Héréditaires du Métabolisme, Hospices Civils de Lyon, F-69500 Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2019.100509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6838931PMC
December 2019

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.

View Article

Download full-text PDF

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

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Mol Genet Metab 2018 04 12;123(4):441-448. Epub 2018 Feb 12.

Department of Biochemistry and Molecular Biology, Laboratory of Endocrinology, Metabolism-Nutrition, Oncology, Biology Pathology Center, CHRU Lille, 59037 Lille, France; Univ. Lille, RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, EA 7364, France; Inserm, Lille, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2018.02.005DOI Listing
April 2018

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

PLoS One 2017 27;12(7):e0181700. Epub 2017 Jul 27.

Service de Biochimie et Biologie Moléculaire Grand Est, Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0181700PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5531455PMC
September 2017

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

Clin Chim Acta 2017 Aug 19;471:101-106. Epub 2017 May 19.

Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU Lille, France; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, France; Inserm, Lille, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2017.05.026DOI Listing
August 2017

Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.

Biochim Biophys Acta Mol Basis Dis 2017 06 6;1863(6):1292-1299. Epub 2017 Apr 6.

CHU de Tours, Médecine Pédiatrique, Tours, France, and Inserm U1069, Université François Rabelais de Tours, PRES Centre-Val de Loire Universités, Tours, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2017.04.005DOI Listing
June 2017

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Rapid Commun Mass Spectrom 2017 Jun;31(11):951-963

Service de Biochimie et Biologie Moléculaire Grand Est, UM Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/rcm.7860DOI Listing
June 2017

Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.

JIMD Rep 2017 10;35:71-78. Epub 2016 Dec 10.

Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est, CHU Lyon, UMR 5305 CNRS/UCBL, 69500, Bron, France.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/8904_2016_22
Publisher Site
http://dx.doi.org/10.1007/8904_2016_22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585096PMC
December 2016

Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

J Inherit Metab Dis 2017 01 16;40(1):103-112. Epub 2016 Nov 16.

Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et Pathologie, Groupement Hospitalier Est, Lyon Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9992-3DOI Listing
January 2017

Oleate dose-dependently regulates palmitate metabolism and insulin signaling in C2C12 myotubes.

Biochim Biophys Acta 2016 12 8;1861(12 Pt A):2000-2010. Epub 2016 Oct 8.

INRA UMR1019 Nutrition Humaine, Laboratoire de Nutrition Humaine, Université d'Auvergne, CRNH, 58 rue Montalembert BP321, 63009 Clermont Ferrand CEDEX 1, France; INRA UMR1397, Laboratoire CarMeN, Inserm UMR1060, Université Lyon 1, INSA de Lyon, Faculté de Médecine Lyon Sud, BP 12, 165 Chemin du Grand Revoyet, 69921 Oullins Cedex, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbalip.2016.10.002DOI Listing
December 2016

Isolated methylmalonic acidemia: a case report.

Ann Biol Clin (Paris) 2016 Aug;74(4):472-6

Département de réanimation pédiatrique, CHU Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/abc.2016.1163DOI Listing
August 2016

Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

J Inherit Metab Dis 2016 09 8;39(5):611-624. Epub 2016 Jul 8.

Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est CHU de Lyon, Lyon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9947-8DOI Listing
September 2016

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

J Inherit Metab Dis 2016 09 22;39(5):597-610. Epub 2016 Apr 22.

Department of Department of Biochemistry, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 bd Pinel, 69677, Bron cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9937-xDOI Listing
September 2016

« Les Confluences » SSIEM 2015 Annual Symposium in Lyon.

J Inherit Metab Dis 2016 07;39(4):481

Service Maladies Héréditaires du Métabolisme & Dépistage Néonatal, Centre de Biologie & de Pathologie Est, CHU de Lyon, 59, Bd Pinel, 69500, Bron, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9934-0DOI Listing
July 2016

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

JIMD Rep 2016 27;27:39-45. Epub 2015 Sep 27.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, University of Paris Descartes, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2F8904_2015_481
Web Search
http://link.springer.com/10.1007/8904_2015_481
Publisher Site
http://dx.doi.org/10.1007/8904_2015_481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864717PMC
May 2016

Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency.

Lancet 2015 Sep;386(9997):1011-2

Nephrology Department, Rouen University Hospital, Rouen, France; INSERM U1096, Rouen University Medical School, Rouen, France; IRIB, Institute for Research and Innovation in Biomedicine, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(15)00076-8DOI Listing
September 2015

DHA at nutritional doses restores insulin sensitivity in skeletal muscle by preventing lipotoxicity and inflammation.

J Nutr Biochem 2015 Sep 11;26(9):949-59. Epub 2015 May 11.

UMR 1019, Unité de Nutrition Humaine, INRA, Centre de Recherche en Nutrition Humaine (CRNH) Auvergne, Clermont Université, Université d'Auvergne, F-63000 Clermont-Ferrand, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jnutbio.2015.04.003DOI Listing
September 2015

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Pediatr Radiol 2015 Jul 3;45(7):965-76. Epub 2015 Feb 3.

Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s00247-014-3257
Web Search
http://link.springer.com/10.1007/s00247-014-3257-9
Publisher Site
http://dx.doi.org/10.1007/s00247-014-3257-9DOI Listing
July 2015

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

Hum Mol Genet 2014 Apr 20;23(7):1907-15. Epub 2013 Nov 20.

Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, IDIBAPS, C/Mejía Lequerica s/n, Barcelona 08028, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt585DOI Listing
April 2014

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.

J Inherit Metab Dis 2014 Jan 27;37(1):137-9. Epub 2013 Jun 27.

Hépatologie Pédiatrique et Maladies Métaboliques, Hôpital des Enfants-CHU Toulouse, Toulouse, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-013-9628-9DOI Listing
January 2014

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.

J Inherit Metab Dis 2013 Sep 3;36(5):795-803. Epub 2012 Oct 3.

Hépatologie Pédiatrique et Maladies Métaboliques, Hôpital des Enfants-CHU Toulouse, Toulouse, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-012-9542-6DOI Listing
September 2013

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.

View Article

Download full-text PDF

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

Glucose-6-phosphatase deficiency.

Orphanet J Rare Dis 2011 May 20;6:27. Epub 2011 May 20.

Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, APHP, Clamart cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-6-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118311PMC
May 2011

Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency.

Muscle Nerve 2011 Mar;43(3):444-6

Service de Médecine Interne orientée vers les Maladies Orphelines et Systémiques, Centre de Référence des Maladies Héréditaires du Métabolisme, CHU de Nancy-Hôpitaux de Brabois, Vandoeuvre-lès-Nancy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.21881DOI Listing
March 2011

A 10-year-old boy with dark urine and acute kidney injury.

Pediatr Nephrol 2011 Aug 27;26(8):1229-33. Epub 2011 Jan 27.

Service de Pédiatrie, Hôpital Pellegrin-Enfants, Centre Hospitalier Universitaire, place Amélie Raba Léon, 33076, Bordeaux cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-011-1763-7DOI Listing
August 2011

Amino acid profiling for the diagnosis of inborn errors of metabolism.

Methods Mol Biol 2011 ;708:25-53

Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Hospices Civils de Lyon, Centre de Biologie Est, Bron, France.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/978-1-61737-985-7_2
Publisher Site
http://dx.doi.org/10.1007/978-1-61737-985-7_2DOI Listing
April 2011

A novel missense mutation in a neonate with nonketotic hyperglycinemia.

Pediatr Neurol 2010 Nov;43(5):363-7

Department of Pediatric and Neonatal Intensive Care Medicine, University Hospital of Saarland, Homburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2010.05.025DOI Listing
November 2010

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

Neurol Res 2011 Jan 31;33(1):24-32. Epub 2010 Aug 31.

Department of Neurosciences, University of Padova, Venetian Institute of Molecular Medicine, Padova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1179/016164110X12767786356390DOI Listing
January 2011

Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.

Neuromuscul Disord 2010 Nov 5;20(11):693-700. Epub 2010 Aug 5.

Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2010.06.018DOI Listing
November 2010

162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28-30 November 2008, Bussum, The Netherlands.

Neuromuscul Disord 2010 Apr 23;20(4):283-9. Epub 2010 Mar 23.

Centre de Référence de Pathologie neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75651 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2010.01.010DOI Listing
April 2010

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

Orphanet J Rare Dis 2008 Jan 30;3. Epub 2008 Jan 30.

Centre de référence Maladies Héréditaires du Métabolisme, Service de Pédiatrie, Hôpital Edouard Herriot, Lyon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-3-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2262878PMC
January 2008

Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.

Pediatr Cardiol 2008 Jan 10;29(1):163-5. Epub 2007 Oct 10.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital La Timone Enfants, Marseille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-007-9051-9DOI Listing
January 2008

Relationship between serum carnitine, acylcarnitines, and renal function in patients with chronic renal disease.

J Ren Nutr 2006 Apr;16(2):125-31

Department of Nephrology, Hôpital E. Herriot, and JE 2411, University Claude Bernard Lyon 1, Lyon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.jrn.2006.01.004DOI Listing
April 2006

Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.

Eur J Pediatr 2006 Jun 8;165(6):389-91. Epub 2006 Mar 8.

Groupement de Médecine Pédiatrique, Hôpital Clocheville, 49 Boulevard Béranger, 37 044 Tours, Cedex 1, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-005-0052-5DOI Listing
June 2006

Electron transfer flavoprotein deficiency: functional and molecular aspects.

Mol Genet Metab 2006 Jun 28;88(2):153-8. Epub 2006 Feb 28.

Centre de Référence Maladies Héréditaires du Métabolisme, Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2006.01.009DOI Listing
June 2006

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.

Mol Genet Metab 2006 Feb 1;87(2):175-7. Epub 2005 Dec 1.

Département de Pédiatrie, Pavillon S, Hôpital Edouard Herriot, Place d'Arsonval, 69437 Lyon Cedex 03, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2005.10.007DOI Listing
February 2006

Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.

Biochim Biophys Acta 2005 Apr 24;1740(1):54-9. Epub 2005 Feb 24.

Universitätsklinikum Münster, Klinik für Kinder-und Jugendmedizin, Albert-Schweitzer-Str. 33, 48149 Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2005.02.006DOI Listing
April 2005

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.

Prenat Diagn 2005 Jan;25(1):60-4

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.983DOI Listing
January 2005