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    • Roseline Froissart
    • Roseline Froissart

      Roseline Froissart

      CHU Lyon HCL, LBMMS - Service Biochimie et Biologie Moléculaire, UM Pathologies Héréditaires du Métabolisme et du Globule Rouge, Bron | Biochemical and Molecular Biology ...

       

       

      KOL Resume for Roseline Froissart

      Year
      2022

      CHU Lyon HCL, LBMMS - Service Biochimie et Biologie Moléculaire, UM Pathologies Héréditaires du Métabolisme et du Globule Rouge, Bron

      2021

      Biochemical and Molecular Biology Department, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France. Electronic address:

      Biochemistry and Molecular Biology and Reference Center for Inherited Metabolic Disorders, Hospices Civils de Lyon, 59 boulevard Pinel, 69677 Bron cedex, France

      2020

      Biochemical and Molecular Biology Department, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France;,

      Service de Biochimie et Biologie Moléculaire Grand Est, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, F-69677, Bron, France

      2019

      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.

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

      2018

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

      2017

      UMR 5305 CNRS/UCBL Lyon France

      2016

      Biochemistry and Molecular Biology, University Hospital, Lyon, France

      Centre de biologie et pathologie Est, hospices civils de Lyon, Bron

      2015

      Hereditary Metabolic Diseases Service, East Center for Biology and Pathology, Lyon Civil Hospices 69677 Bron cedex, France

      2014

      Laboratoire des Maladies Héréditaires du Métabolisme, Groupe Hospitalier Est, Hospices Civils de Lyon, 69500, Bron, France

      2012

      Laboratoire des Maladies Héréditaires du Métabolisme et Laboratoire Gillet‐Mérieux, Groupe Hospitalier Est, Hospices Civils de Lyon, Bron, 69500, France

      2011

      INSERM U820, Université Claude Bernard, F-69008 Lyon, France and

      Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677 Bron cedex, France

      2010

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

      2009

      Department of Biochemistry, Hôpital Debrousse, Lyon, France

      2008

      Centre de Référence des Maladies Héréditaires du Métabolisme, Lyon-Bron, France

      2007

      Centre de Référence des Maladies Héréditaires du Métabolisme, Hospices Civils de Lyon

      Laboratoire maladies héréditaires du métabolisme, groupement hospitalier est, 59, boulevard Pinel, 69677 Bron, France

      2006

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

      2005

      Centre d’Etude des Maladies Héréditaires du Métabolisme, Hôpital Debrousse, Lyon, France

      2003

      Centre of Studies for Metabolic Diseases, Debrousse Hospital, Lyon, France

      2002

      Paediatric Biochemistry Department, Debrousse Hospital, Lyon, France

      2001

      Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France,

      1999

      Centre d’études des Maladies Métaboliques, Hôpital Debrousse, 69322 Lyon Cedex 05, France

      1998

      Biochimie Pédiatrique, Höpital Debrousse, Lyon, France

      1997

      Centre d'Etudes des Maladies Métaboliques, Biochimie Bâtiment D, Hôpital Debrousse, Lyon, France.

      1996

      Laboratoire de Biochimie Pédiatrique, Hôpital Debrousse, 69322 Lyon Cedex 05, France

      1995

      Centre d′Etudes des Maladies Métaboliques, Hôpital Debrousse, Bât. D, 29 rue Soeur Bouvier, 69322 Lyon Cedex 05, France

      1993

      Centre d'Etudes des Maladies Métaboliques, Hǒpital Debrousse, Bǎt. D, 69322 Lyon Cedex 05, France

       

       

      Roseline Froissart: Influence Statistics

      Sample of concepts for which Roseline Froissart is among the top experts in the world.
      Concept World rank
      biomarker chitotriosidase #1
      oligosaccharidoses #1
      eighteen variants #1
      mutation phka1 #1
      polymorphisms tunisian patients #1
      study idua mutations #1
      lsds biomarkers #1
      new gbe1 mutation #1
      12 additional mps #1
      l578q #1
      early implantation defect #1
      gm1 gangliosidosis sialidosis #1
      abnormal glycogen #1
      type système phosphorylase #1
      type glycogénoses #1
      associating myopathy #1
      mutation polymorphisms #1
      système phosphorylase types #1
      f602x #1
      lorsqu elle réalisée #1
      rare inherited leukodystrophy #1
      ph188p biopsy female #1
      affectant synthèse #1
      dans biopsie #1
      types glycogénoses #1
      non‐lethal neonatal #1
      severe mps patient #1
      pp533r mutation #1
      140ca #1
      exon ph188p #1
      gsd viii #1
      missense neuromuscular diseases #1
      presenting hydrops #1
      mutation associating #1
      gbe1 mutations case #1
      déficit myophosphorylase type #1
      new gbe1 #1
      gbe1 mutations #1
      y581x #1
      ph188p c563ac #1
      glycogène étant présent #1

       

      Prominent publications by Roseline Froissart

      KOL-Index: 10975

      BACKGROUND: The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma.

      METHODOLOGY: We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS/MS: lysoglobotriaosylceramide for Fabry disease, lysohexosylceramide (i.e. ...

      Known for Pick Type | Amniotic Fluid | Patients Sphingolipidoses | Fabry Disease | Gm2 Gangliosidosis
      KOL-Index: 9090

      BACKGROUND: Fabry disease (OMIM 301 500) is an X-linked lysosomal storage disease. Neurological symptoms in Fabry disease mainly include stroke, acroparesthesia, cranial nerve palsies and autonomic dysfunction. We report on aseptic meningitis in Fabry patients.

      METHODS: Clinical analysis, brain magnetic resonance imaging, cerebrospinal fluid analysis, treatment and outcome data were analysed in three cases of meningitis associated with Fabry disease.

      FINDINGS: Mean age at meningitis ...

      Known for Fabry Disease | Aseptic Meningitis | Enzyme Replacement Therapy | Cerebrospinal Fluid Analysis | Erythrocyte Sedimentation Rate
      KOL-Index: 8687

      Sanfilippo syndrome is a mucopolysaccharidosis (MPS) caused by a lysosomal enzyme defect interrupting the degradation pathway of heparan sulfates. Affected children develop hyperactivity, aggressiveness, delayed development, and severe neuropathology. We observed relevant behaviors in the mouse model of Sanfilippo syndrome type B (MPSIIIB), in which the gene coding for alpha-N-acetylglucosaminidase (NaGlu) is invalidated. We addressed the feasibility of gene therapy in these animals. ...

      Known for Mouse Model | Naglu Activity | Sanfilippo Type | Gene Therapy Animals | Treated Mice
      KOL-Index: 8031

      Summary:Over the last 15 years, we have performed a total of 30 haematopoietic stem cell transplants on 27 children suffering from Hurler's syndrome. These children were of median age 11 months at the time of diagnosis and 25 months at the time of transplantation. The phenotype was severe in 21 cases (78%). The donor was familial in 13 cases: nine genotypically identical, one phenotypically identical father and three HLA-mismatched donors. Unrelated donors were selected in 17 cases: four ...

      Known for Stem Cell | Unrelated Donors | Hurlers Syndrome | Bone Marrow | 25 Months
      KOL-Index: 7608

      Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between ...

      Known for Phosphatase Deficiency | Disease Type | Liver Biopsy | Mutations Genes | Growth Retardation
      KOL-Index: 7462

      OBJECTIVE: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central and peripheral nervous systems and are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis and enable future evaluation of therapeutic strategies, we conducted a multinational study of the natural history and imaging ...

      Known for Magnetic Resonance | Adult Polyglucosan | Imaging Findings | Body Disease | Spastic Paraplegia
      KOL-Index: 7405

      BackgroundFabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different prognosis. From 2001, enzyme replacement therapies (ERT) have been available. We aimed to determine the epidemiology and the functional characteristics of anti-drug antibodies. Patients from the French multicenter cohort FFABRY (n = 103 patients, 53 males) were prospectively screened for total anti-agalsidase ...

      Known for Fabry Disease | Classic Phenotype | Drug Antibodies | Enzyme Replacement | Alpha Galactosidase
      KOL-Index: 7261

      BACKGROUND: Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes.

      AIM OF STUDY: This study was carried out on six newly collected MPS I patients recruited from many regions of Tunisia.

      PATIENTS AND METHODS: Mutational analysis of the IDUA gene in unrelated MPS I ...

      Known for Mucopolysaccharidosis Type | Tunisian Patients | Idua Gene | Mutational Analysis | Heparan Sulfate
      KOL-Index: 7163

      OBJECTIVE: To evaluate the effect of bone marrow transplantation in children with Hunter syndrome.

      STUDY DESIGN: Eight boys received a bone marrow graft between the ages of 3 and 16 years from 1990 to 2000. In 6 cases, the donor was a sibling with identical HLA status, in 1 case an unrelated donor with HLA-compatible, and in 1 case a mismatched unrelated donor. A complete multidisciplinary evaluation was performed yearly.

      RESULTS: Successful engraftment was achieved in all patients, with ...

      Known for Hunter Syndrome | Bone Marrow Transplantation | Unrelated Donor | Joint Stiffness | Successful Engraftment
      KOL-Index: 7085

      Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We ...

      Known for Mucopolysaccharidosis Type | Age Diagnosis | United Kingdom | Natural Patients | Clinical Presentation
      KOL-Index: 6855

      Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in cells of various tissues resulting in end-organ manifestations. Initially, FD is typically characterized by angiokeratoma and recurrent episodes of neuropathic pain in the extremities occurring during childhood or adolescence. Most affected patients also exhibit a decreased ability to sweat. Later in life, FD results in left ...

      Known for Fabry Nephropathy | Patients Fd | Kidney Disease | Renal Failure | Ventricular Hypertrophy
      KOL-Index: 6855

      Recent trials in patients with neurodegenerative diseases documented the safety of gene therapy based on adeno-associated virus (AAV) vectors deposited into the brain. Inborn errors of the metabolism are the most frequent causes of neurodegeneration in pre-adulthood. In Sanfilippo syndrome, a lysosomal storage disease in which heparan sulfate oligosaccharides accumulate, the onset of clinical manifestation is before 5 years. Studies in the mouse model showed that gene therapy providing ...

      Known for Gene Therapy | Sanfilippo Syndrome | Mouse Model | Inborn Errors | Lysosomal Storage Disease
      KOL-Index: 6718

      Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates. The disease has severe and milder phenotypic subtypes. The aim of this study was the detection of mutations in the IDUA gene from 12 additional MPS I patients with various clinical phenotypes (severe, 8 cases; intermediate, 3 cases; mild, 1 case).

      PATIENTS AND METHODS: In ...

      Known for Mucopolysaccharidosis Type | Molecular Analysis | Idua Mutations | Mutation Polymorphisms | Tunisian Patients
      KOL-Index: 6630

      By providing access to affected neurons, human induced pluripotent stem cells (iPSc) offer a unique opportunity to model human neurodegenerative diseases. We generated human iPSc from the skin fibroblasts of children with mucopolysaccharidosis type IIIB. In this fatal lysosomal storage disease, defective α-N-acetylglucosaminidase interrupts the degradation of heparan sulfate (HS) proteoglycans and induces cell disorders predominating in the central nervous system, causing relentless ...

      Known for Stem Cells | Induced Pluripotent | Heparan Sulfate | Human Ipsc | Cell Proliferation

      Key People For Fabry Disease

      Top KOLs in the world
      #1
      Robert J Desnick
      fabry disease acute intermittent porphyria prenatal diagnosis
      #2
      Dominique Paul Germain
      fabry disease enzyme replacement therapy agalsidase beta
      #3
      Roscoe O Brady
      fabry disease enzyme replacement therapy bipolar disorder
      #4
      Raphael Schiffmann
      fabry disease agalsidase alfa mucolipidosis type
      #5
      Christine M Eng
      fabry disease prenatal diagnosis intellectual disability
      #6
      William R Wilcox
      fabry disease fibroblast growth factor kniest dysplasia

      Roseline Froissart:Expert Impact

      Concepts for whichRoseline Froissarthas direct influence:Fabry disease,  Mucopolysaccharidosis type,  Gaucher disease,  Amniotic fluid,  Prenatal diagnosis,  Gm1 gangliosidosis,  Ids gene,  Molecular analysis.

      Roseline Froissart:KOL impact

      Concepts related to the work of other authors for whichfor which Roseline Froissart has influence:Fabry disease,  Mucopolysaccharidosis type,  Gene therapy,  Hunter syndrome,  Lysosomal storage,  Enzyme replacement,  Inborn errors.


       

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      CHU Lyon HCL, LBMMS - Service Biochimie et Biologie Moléculaire, UM Pathologies Héréditaires du Métabolisme et du Globule Rouge, Bron | Biochemical and Molecular Biology Department, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69

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