Roseline Froissart

Roseline Froissart

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Roseline Froissart

Roseline Froissart

Publications by authors named "Roseline Froissart"

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48Publications

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A rare late progression form of Sly syndrome mucopolysaccharidosis.

JIMD Rep 2019 Sep 29;49(1):1-6. Epub 2019 Jul 29.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant Hospices Civils de Lyon Bron France.

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http://dx.doi.org/10.1002/jmd2.12039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718110PMC
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.

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http://dx.doi.org/10.1212/WNL.0000000000007943DOI Listing
August 2019

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.

Eur J Hum Genet 2019 03 5;27(3):337-339. Epub 2018 Oct 5.

APHP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France, Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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http://www.nature.com/articles/s41431-018-0250-z
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http://dx.doi.org/10.1038/s41431-018-0250-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460556PMC
March 2019

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

J Inherit Metab Dis 2018 11 28;41(6):937-946. Epub 2018 Aug 28.

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.

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http://dx.doi.org/10.1007/s10545-018-0243-7DOI Listing
November 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

Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.

Muscle Nerve 2018 Jan 21;57(1):157-160. Epub 2017 Mar 21.

Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67098, Strasbourg, France.

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http://dx.doi.org/10.1002/mus.25588DOI Listing
January 2018

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.

Eur J Paediatr Neurol 2017 Nov 29;21(6):907-911. Epub 2017 Jul 29.

Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.07.015DOI Listing
November 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.

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

Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.

Pediatr Dev Pathol 2016 Nov/Dec;19(6):512-515. Epub 2014 Dec 9.

1 Service d'Anatomie et Cytologie Pathologiques-Hôpital d'Enfants Armand Trousseau-AP-HP, Paris, France.

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http://journals.sagepub.com/doi/10.2350/14-09-1557-CR.1
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http://dx.doi.org/10.2350/14-09-1557-CR.1DOI 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.

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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.

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

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.

Diagn Pathol 2016 Jun 17;11(1):51. Epub 2016 Jun 17.

Department of Biology, Laboratory of Biotechnologies and Valorization of Natural Resources. IBN Zohr University, School of Sciences, BP 8106, Agadir, Morocco.

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http://dx.doi.org/10.1186/s13000-016-0498-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912732PMC
June 2016

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.

Meta Gene 2015 Sep 25;5:144-9. Epub 2015 Jul 25.

The Auvergne-Loire Regional Branch of the French National Blood System EFS/GIMAP-EA 3064, 42100 Saint Etienne, France.

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http://dx.doi.org/10.1016/j.mgene.2015.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528043PMC
September 2015

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

J Inherit Metab Dis 2013 Sep 30;36(5):859-68. Epub 2012 Nov 30.

Department of Neurology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris and University Pierre&Marie Curie, Paris, France.

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http://dx.doi.org/10.1007/s10545-012-9560-4DOI Listing
September 2013

Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.

Nephrol Dial Transplant 2013 Mar 12;28(3):505-17. Epub 2012 Dec 12.

Department of Internal Medicine,Regional Hospital Jan Yperman, Ypres, Belgium.

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http://dx.doi.org/10.1093/ndt/gfs526DOI Listing
March 2013

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.

Gene 2013 Feb 21;515(2):376-9. Epub 2012 Dec 21.

AP-HP, Department of Neuropathology, Hospital La Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.gene.2012.12.065DOI Listing
February 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.

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

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.

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

Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.

Muscle Nerve 2010 Feb;41(2):269-71

Laboratoire d'Anatomie Pathologique et Neuropathologie, Hôpital de la Timone Adultes, 264 rue Saint-Pierre, 13385 Marseille Cedex 05, France.

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http://dx.doi.org/10.1002/mus.21499DOI Listing
February 2010

[Biomarkers in Gaucher disease: up-to-date].

Presse Med 2009 Dec;38 Suppl 2:2S28-31

Laboratoire des Maladies Héréditaires du Métabolisme, Centre de Biologie Est, Hospices Civils de Lyon, 59 boulevard Pinel, 69677 Bron cedex, France.

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http://dx.doi.org/10.1016/S0755-4982(09)73665-6DOI Listing
December 2009

Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years.

J Pediatr 2009 May 23;154(5):733-7. Epub 2009 Jan 23.

Reference Center of Metabolic Disease, Hospices Civils de Lyon, France.

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http://dx.doi.org/10.1016/j.jpeds.2008.11.041DOI Listing
May 2009

Mucopolysaccharidosis type II: an update on mutation spectrum.

Acta Paediatr 2007 Apr;96(455):71-7

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Debrousse, Hospices Civils, Lyon, France.

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http://dx.doi.org/10.1111/j.1651-2227.2007.00213.xDOI Listing
April 2007

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.

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

Molecular pathology of NEU1 gene in sialidosis.

Hum Mutat 2003 Nov;22(5):343-52

Service de Génétique Médicale, Hôpital Sainte-Justine, Département de Pédiatrie, Faculté de Médicine, Université de Montréal, Montréal, Canada.

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http://doi.wiley.com/10.1002/humu.10268
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http://dx.doi.org/10.1002/humu.10268DOI Listing
November 2003