Monique Piraud

Monique Piraud

UNVERIFIED PROFILE

Are you Monique Piraud?   Register this Author

Register author
Monique Piraud

Monique Piraud

Publications by authors named "Monique Piraud"

Are you Monique Piraud?   Register this Author

33Publications

1120Reads

35Profile Views

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

J Inherit Metab Dis 2019 Sep 8;42(5):803-808. Epub 2019 Apr 8.

Neurology Department, Hôpital Raymond Poincaré, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12087DOI Listing
September 2019

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

Neurology 2019 08 23;93(7):e647-e652. Epub 2019 Jul 23.

From the Department of Neurology, Reference Center for Lysosomal Diseases, UF Neuro-Genetics and Metabolism (L.C., R.D., Y.N.), and Department of Neuroradiology (B.L.-Y., N.P., D.L.), Pitié-Salpêtrière Hospital, Paris; Service de Biochimie et Biologie Moléculaire Grand Est (R.F., M.P.), Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron; UMR 5305 CNRS/UCBL (R.F.), Lyon, France; Department of Medicine, Surgery and Neurosciences (A.F., S.S.), Unit of Neurology and Neurometabolic Diseases, Medical School, University of Siena; Neuroradiology Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Siena, Italy; Department of Neurology (M.C.M., J.D.), Coimbra Hospital and University Centre, Portugal; Department of Neurology (S.H.K.), College of Medicine, Hanyang University, Seoul, Korea; Division of Neurology (H.A.), Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Japan; Department of Neurology (B.A.), La Timone Hospital; Aix-Marseille University (B.A.), CNRS, CRMBM UMR, Marseille; Department of Neurology (X.A.), Montpellier University Hospital, France; Department of Neurology (Y.D.), Xuan Wu Hospital, Capital Medical University, Beijing, China; Department of Neurology (R.H.), Royal Brisbane Hospital, Brisbane, Australia; Laboratory of Neurogenetics of Motion and Department of Neuroradiology (R.L.P.), Montréal Neurological Institute and Hospital, McGill University, Montréal; Department of Radiology (C.L.), Department of Pathology and Laboratory Medicine (C.L.), International Collaboration on Repair Discoveries (ICORD) (C.L.), Department of Physics and Astronomy (C.L.), and Division of Endocrinology, Department of Medicine (S.M.S.), University of British Columbia, Vancouver, Canada; Department of Neurology (K.N.), Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Neurology and Hertie-Institute for Clinical Brain Research (L.S.), Eberhard-Karls-University; German Center of Neurodegenerative Diseases (DZNE) (L.S.), Tübingen, Germany; Department of Neurology (F.V.), Caen-Normandie University Hospital, Caen; Inserm U1077 (F.V.), EPHE, Caen-Normandie University, Caen, France; and Department of Neurology and Stroke (K.J.), Medical University of Lodz, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007943DOI Listing
August 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

Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.

Clin Chim Acta 2017 Dec 2;475:7-14. Epub 2017 Oct 2.

Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76000, France; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2017.09.024DOI Listing
December 2017

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

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

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

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

PLoS Genet 2014 Nov 13;10(11):e1004711. Epub 2014 Nov 13.

INSERM U781, Institut Imagine des Maladies Génétiques, Université Paris Descartes et Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, AP-HP, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230727PMC
November 2014

Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.

Orphanet J Rare Dis 2014 Feb 6;9:19. Epub 2014 Feb 6.

Biochemistry Laboratory, University Hospital, Nice, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-9-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922009PMC
February 2014

Severe axial myopathy in McArdle disease.

JAMA Neurol 2014 Jan;71(1):88-90

Neuromuscular Research Unit, Department of Neurology, Blegdamsvej, Copenhagen, Sealand, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaneurol.2013.3209DOI Listing
January 2014

Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.

J Clin Endocrinol Metab 2013 Jul 18;98(7):E1235-40. Epub 2013 Jun 18.

Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-1651DOI Listing
July 2013

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

J Neurol Sci 2013 Jan 10;324(1-2):179-82. Epub 2012 Nov 10.

AP-HP, Service de neurologie, Hôpital Avicenne, Bobigny, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2012.10.015DOI Listing
January 2013

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.

J Neurol Sci 2012 May 23;316(1-2):173-7. Epub 2012 Feb 23.

Unité de Morphologie Neuromusculaire Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2012.01.027DOI Listing
May 2012

TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism.

Skelet Muscle 2012 Jan 18;2(1). Epub 2012 Jan 18.

Lyon University, INSERM U1060, CarMeN Laboratory, University Lyon-1, Institut National de la Recherche Agronomique UMR1235, INSA-Lyon, F-69600 Oullins, France.

View Article

Download full-text PDF

Source
http://skeletalmusclejournal.biomedcentral.com/articles/10.1
Publisher Site
http://dx.doi.org/10.1186/2044-5040-2-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3344678PMC
January 2012

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

J Inherit Metab Dis 2011 Oct 27;34(5):1069-73. Epub 2011 May 27.

Department Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 50, 3015GE, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1007/s10545-011-9351-3
Publisher Site
http://dx.doi.org/10.1007/s10545-011-9351-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173643PMC
October 2011

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

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

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.

Mol Genet Metab 2004 Nov;83(3):231-8

Lysosomal Diseases Research Unit, Department of Chemical Pathology, Adelaide Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2004.07.015DOI Listing
November 2004