Affiliation: Hospices Civils de Lyon
- [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...
- The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patientsJerome 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...
- Glucose-6-phosphatase deficiencyRoseline 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...
- Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patientsLatifa 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...
- Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type IILatifa 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..
- [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...
- [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...
- Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in uteroR 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...
- Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patientsR 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...
- [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...
- Mucopolysaccharidosis type II--genotype/phenotype aspectsR 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...
- The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signalsS Cudry
Centre d études des Maladies Métaboliques, Hopital Debrousse, 69322, Lyon, France
Biochim Biophys Acta 1447:35-42. 1999....
- Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathyC 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...
- Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residueG 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...
- [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...
- Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sourcesG Souillet
Department of Paediatric Immuno Hematology and Bone Marrow Transplantation, Debrousse Hospital, Lyon, France
Bone Marrow Transplant 31:1105-17. 2003....
- Hunter syndrome: gene deletions and rearrangementsR Froissart
Centre d études des Maladies Métaboliques, Hopital Debrousse, Lyon, France
Hum Mutat 2:138-40. 1993
- MPS II in females: molecular basis of two different casesS Cudry
J Med Genet 37:E29. 2000
- [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...
- [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...
- Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutationsI Moreira da Silva
Clin Genet 60:316-8. 2001