R Froissart

Summary

Affiliation: Hospices Civils de Lyon
Country: France

Publications

  1. doi request reprint [Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease]
    M Piraud
    Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie Est, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677, Bron Cedex, France
    Rev Med Interne 31:S270-4. 2010
  2. pmc The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients
    Jerome Stirnemann
    INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Orphanet J Rare Dis 7:77. 2012
  3. pmc Glucose-6-phosphatase deficiency
    Roseline Froissart
    Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pediatrie, APHP, Clamart Cedex, France
    Orphanet J Rare Dis 6:27. 2011
  4. pmc Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
    Latifa Chkioua
    Laboratory of Biochemistry, Farhat Hached Hospital, 4000 Sousse Tunisia
    Diagn Pathol 6:47. 2011
  5. pmc Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II
    Latifa Chkioua
    Biochemistry laboratory Farhat Hached Hospital, 4000 Sousse, Tunisia
    Diagn Pathol 6:42. 2011
  6. doi request reprint [Contribution of genotyping in Fabry's disease]
    R Froissart
    Laboratoire des Maladies Héréditaires du Métabolisme, Centre de Biologie Est, Hospices Civils de Lyon, Bron, France
    Rev Med Interne 31:S275-8. 2010
  7. ncbi request reprint [Current and future biochemical markers for Gaucher disease]
    R Froissart
    Laboratoire de Biochimie Pédiatrique, Hopital Debrousse, 29, rue Sceur Bouvier, 69322 Lyon cedex 05, France
    Rev Med Interne 27:S22-5. 2006
  8. pmc Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero
    R Froissart
    Centre d étude des maladies héréditaires du métabolisme, Hopital Debrousse, Lyon, France
    J Med Genet 42:829-36. 2005
  9. ncbi request reprint Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
    R Froissart
    Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
    Clin Genet 53:362-8. 1998
  10. ncbi request reprint [Current development and usefulness of biomarkers for Gaucher disease follow up]
    I Maire
    Centre de Référence des Maladies Héréditaires du Métabolisme, Hospices Civils de Lyon, France
    Rev Med Interne 28:S187-92. 2007

Collaborators

  • N Guffon
  • M Piraud
  • S Cudry
  • G Millat
  • David Cheillan
  • C Dupont
  • Francois Petit
  • Y Bertrand
  • M O Rolland
  • I Maire
  • N Bleyzac
  • A Dandana
  • Latifa Chkioua
  • Jerome Stirnemann
  • Henda Chahed
  • Christine Vianey-Saban
  • Souhir Khedhiri
  • Abdelhedi Miled
  • Sandrine Laradi
  • Remy Tcheng
  • Salima Ferchichi
  • C Conter
  • G Souillet
  • I Moreira da Silva
  • France Mentre
  • Agathe Masseau
  • Linda Rossi-Semerano
  • Fabrice Camou
  • Thierry Levade
  • Pierre Kaminsky
  • Djazia Heraoui
  • Olivier Fain
  • Bernard Grosbois
  • Christine de Roux-Serratrice
  • Nadia Belmatoug
  • Dalil Hamroun
  • Marc G Berger
  • Thierry Billette de Villemeur
  • Vassili Valayanopoulos
  • Frédéric Sedel
  • Cyril Mignot
  • Christian Rose
  • Marie T Vanier
  • Marie Vigan
  • Dries Dobbelaere
  • Alain Robert
  • Bruno Fantin
  • Catherine Caillaud
  • Marie Françoise Ben Dridi
  • Hadhami Ben Turkia
  • V Bonnet
  • P Guibaud
  • L Gebuhrer
  • F Sevin
  • J Berard
  • M Pujol
  • C Galambrun
  • C Dorche
  • P Taylor
  • C Mulier
  • C Garin
  • A Durin
  • K Kebaili
  • H Marques dos Santos
  • D Bozon
  • C Caseiro

Detail Information

Publications21

  1. doi request reprint [Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease]
    M Piraud
    Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie Est, Hospices Civils de Lyon, 59 Boulevard Pinel, 69677, Bron Cedex, France
    Rev Med Interne 31:S270-4. 2010
    ..The diagnosis of FD heterozygote cannot be completely excluded even if urinary Gb(3) and α-Gal A in leukocytes are normal. Urinary Gb(3) can be used for therapeutic follow-up (enzyme replacement therapy) when increased...
  2. pmc The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients
    Jerome Stirnemann
    INSERM, UMR 738, Laboratoire de Biostatistiques Hôpital Bichat, Assistance Publique Hopitaux de Paris AP HP, Paris, France
    Orphanet J Rare Dis 7:77. 2012
    ..Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described...
  3. pmc Glucose-6-phosphatase deficiency
    Roseline Froissart
    Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pediatrie, APHP, Clamart Cedex, France
    Orphanet J Rare Dis 6:27. 2011
    ..DISEASE NAME AND SYNONYMS: Glucose-6-phosphatase deficiency or G6P deficiency or glycogen storage disease type I or GSDI or type I glycogenosis or Von Gierke disease or Hepatorenal glycogenosis...
  4. pmc Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
    Latifa Chkioua
    Laboratory of Biochemistry, Farhat Hached Hospital, 4000 Sousse Tunisia
    Diagn Pathol 6:47. 2011
    ..Patients and methods: Mutational analysis of the IDUA gene in unrelated MPS I families was performed by sequencing the exons and intron-exon junctions of IDUA gene...
  5. pmc Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II
    Latifa Chkioua
    Biochemistry laboratory Farhat Hached Hospital, 4000 Sousse, Tunisia
    Diagn Pathol 6:42. 2011
    ..Hunter disease can vary from mild to severe, depending on the level of enzyme deficiency. We report the IDS mutation and polymorphisms causing the Hunter syndrome in patients from one family in Tunisia..
  6. doi request reprint [Contribution of genotyping in Fabry's disease]
    R Froissart
    Laboratoire des Maladies Héréditaires du Métabolisme, Centre de Biologie Est, Hospices Civils de Lyon, Bron, France
    Rev Med Interne 31:S275-8. 2010
    ..Furthermore, variations of the phenotype, even within the same family, suggest that other factors (genetic and epigenetic) could influence disease progression...
  7. ncbi request reprint [Current and future biochemical markers for Gaucher disease]
    R Froissart
    Laboratoire de Biochimie Pédiatrique, Hopital Debrousse, 29, rue Sceur Bouvier, 69322 Lyon cedex 05, France
    Rev Med Interne 27:S22-5. 2006
    ..The identification of new biomarkers in the near future should enable a clearer understanding of the pathophysiology of this complex disease, which involves numerous cell processes...
  8. pmc Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero
    R Froissart
    Centre d étude des maladies héréditaires du métabolisme, Hopital Debrousse, Lyon, France
    J Med Genet 42:829-36. 2005
    ..We report a series of 12 French patients with very early manifestations, including eight fetuses diagnosed in utero...
  9. ncbi request reprint Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
    R Froissart
    Biochimie Pédiatrique, Hopital Debrousse, Lyon, France
    Clin Genet 53:362-8. 1998
    ..The mother was not found to be a carrier in five cases among the 44 sporadic cases. Haplotype analysis demonstrated a higher frequency of mutations in male meiosis...
  10. ncbi request reprint [Current development and usefulness of biomarkers for Gaucher disease follow up]
    I Maire
    Centre de Référence des Maladies Héréditaires du Métabolisme, Hospices Civils de Lyon, France
    Rev Med Interne 28:S187-92. 2007
    ..An assessment every 3 months is recommended during the first year of treatment. Then when clinical goals have been achieved, the frequency can be reduced to every 12 months if the therapeutic scheme is not modified...
  11. ncbi request reprint Mucopolysaccharidosis type II--genotype/phenotype aspects
    R Froissart
    Paediatric Biochemistry Department, Debrousse Hospital, Lyon, France
    Acta Paediatr Suppl 91:82-7. 2002
    ..The response of patients with MPS II to allogenic bone marrow transplantation provides some insight into the likely influence of certain genotypes on therapeutic efficacy...
  12. ncbi request reprint The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals
    S Cudry
    Centre d études des Maladies Métaboliques, Hopital Debrousse, 69322, Lyon, France
    Biochim Biophys Acta 1447:35-42. 1999
    ....
  13. ncbi request reprint Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy
    C Conter
    Centre d Etude des Maladies Métaboliques, Hopital Debrousse, Lyon, France
    J Inherit Metab Dis 29:135-42. 2006
    ..No mutation could be found in two patients, suggesting possible defects in the H-protein or gene alterations that could not be identified by our technique. The potential use of genotype determination for prenatal diagnosis is emphasized...
  14. pmc Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue
    G Millat
    Centre d études des Maladies Métaboliques, Hopital Debrousse, Lyon, France
    Biochem J 326:243-7. 1997
    ..The C84T mutation produced a small amount of mature forms but also abolished enzyme activity, confirming that the cysteine residue at position 84 is required for IDS activity...
  15. ncbi request reprint [Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report]
    C Dupont
    Service de Pediatrie, hôpital de Lisieux, rue Roger Aini, 14100 Lisieux, France
    Arch Pediatr 15:45-9. 2008
    ..The aim of this case report is to draw physicians' attention on the presenting signs of Hurler's disease, in order to enable an earlier diagnosis, increasing the treatment's benefits...
  16. ncbi request reprint Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
    G Souillet
    Department of Paediatric Immuno Hematology and Bone Marrow Transplantation, Debrousse Hospital, Lyon, France
    Bone Marrow Transplant 31:1105-17. 2003
    ....
  17. ncbi request reprint Hunter syndrome: gene deletions and rearrangements
    R Froissart
    Centre d études des Maladies Métaboliques, Hopital Debrousse, Lyon, France
    Hum Mutat 2:138-40. 1993
  18. pmc MPS II in females: molecular basis of two different cases
    S Cudry
    J Med Genet 37:E29. 2000
  19. doi request reprint [Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease]
    A Dandana
    Service de Biochimie, CHU Farhat Hached, 4000 Sousse, Tunisie
    Pathol Biol (Paris) 56:88-93. 2008
    ..Finally, the absence of the 55 pb deletion in exon 9 among corroborated the presence of the homozygous genotype of this p.Asn 370 Ser in the patient DNA...
  20. ncbi request reprint [Biochemical and molecular diagnosis of Gaucher disease in Tunisia]
    A Dandana
    Laboratoire de Biochimie, CHU Farhat Hached, Sousse, Tunisia
    Ann Biol Clin (Paris) 65:647-52. 2007
    ..It has no detection of the 55 pb deletion in exon 9 among all the specimens of DNA treated. The mutation p.Asn 370 Ser is associated with Gaucher disease type 1 correlated of a total absence of neurological involvements...
  21. ncbi request reprint Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations
    I Moreira da Silva
    Clin Genet 60:316-8. 2001