- [Diagnosis of lysosomal diseases]C Caillaud
Laboratoire de génétique métabolique, Faculté de Médecine Cochin Port Royal, Institut Cochin, 24 rue du Faubourg St Jacques, 75013 Paris, France
Rev Med Interne 28:S288-9. 2007
- [Gaucher's and Fabry's diseases: biochemical and genetic aspects]Catherine Caillaud
Laboratoire de Génétique AP HP, Universite Paris V, Département GDPM INSERM, Institut Cochin, 24, rue du Faubourg Saint Jacques, Paris, 75014 France
J Soc Biol 196:135-40. 2002..These two diseases, well defined at the biochemical and genetic level, are good models of inherited diseases for the development of specific therapies...
- Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe diseaseGaelle Douillard-Guilloux
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
Hum Mol Genet 19:684-96. 2010....
- Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?Lionel Batista
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, 24 rue du Faubourg St Jacques, 75014 Paris, France
Neurobiol Dis 37:656-60. 2010..On the basis of these in vitro data, we propose that brain endothelium be considered as a novel therapeutic target in Sandhoff disease...
- Correction of glycogenosis type 2 by muscle-specific lentiviral vectorEmmanuel Richard
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, INSERM U567, Paris, France
In Vitro Cell Dev Biol Anim 44:397-406. 2008..Transduced cells showed lysosomal glycogen clearance, as demonstrated by electron microscopy. These results form the basis for a therapeutic approach of GSDII using lentiviral vector-mediated gene transfer into muscle stem cells...
- A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patientsSéverine Lecourt
Assistance Publique Hopitaux de Paris, Hopital Saint Louis, Unité de Thérapie Cellulaire et Centre d Investigation Clinique en Biothérapies CIC BT501, Paris, France INSERM UMRS940, Institut Universitaire d Hematologie, Hopital Saint Louis, Paris, France Univ Paris Diderot, Sorbonne Paris Cité, Paris, France
PLoS ONE 8:e69293. 2013..However, GD-MSCs had a lower hematopoietic supportive capacity than those from healthy donors. These data suggest that BM microenvironment is altered in GD and that MSCs are key components of the manifestations observed in GD. ..
- Characterization of seven novel mutations on the HEXB gene in French Sandhoff patientsPauline Gaignard
Service de Biochimie et Génétique Moléculaire, Groupe Hospitalier Cochin Broca Hôtel Dieu, Assistance Publique Hopitaux de Paris, Paris, France
Gene 512:521-6. 2013..176del. Finally, this study reports a rapid detection of the Sandhoff disease-causing alleles facilitating genetic counselling and prenatal diagnosis in at-risk families...
- A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patientsIchraf Kraoua
Reference Center for Lysosomal Diseases, Hopital de la Salpetriere, Paris, France
Brain Dev 33:131-9. 2011..To describe the clinical presentation of 10 patients with type 3 Gaucher disease and the clinical evolution of nine of them following specific therapy regimes...
- Rigid spine syndrome revealing late-onset Pompe diseasePascal Laforet
Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
Neuromuscul Disord 20:128-30. 2010....
- 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...
- A new lysosomal storage disorder resembling Morquio syndrome in sibsLaurence Perrin
Departments of Genetics, AP HP Robert DEBRE University Hospital, Paris, France
Eur J Med Genet 55:157-62. 2012..We hypothesize that these two boys have a distinct autosomal recessive or X-linked lysosomal storage disorder of unknown origin that shares clinical and radiological features with Morquio disease...
- Bone marrow microenvironment in an in vitro model of Gaucher disease: consequences of glucocerebrosidase deficiencySéverine Lecourt
Unité de Thérapie Cellulaire, Assistance Publique Hopitaux de Paris, Hopital Saint Louis, Paris, France
Stem Cells Dev 21:239-48. 2012..These data suggested that, in GD, MSCs represents a stem cell population that is likely to be involved in bone pathogenesis...
- Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and GreeceBenedicte Heron
Hopital Trousseau, Centre de référence des maladies lysosomales, Paris, France
Am J Med Genet A 155:58-68. 2011..Notwithstanding the rapidity of further clinical deterioration, all MPSIII patients suffer early onset devastating neurological manifestations that deserve early treatment when available...
- Rapid identification of HEXA mutations in Tay-Sachs patientsCarole Giraud
Service de Biochimie et Génétique Moléculaire, Groupe Hospitalier Cochin Saint Vincent De Paul, Assistance Publique Hopitaux de Paris, EA3620, Universite Paris Descartes, Paris, France
Biochem Biophys Res Commun 392:599-602. 2010..The time-saving procedure reported here could be useful for the characterization of Tay-Sachs-causing mutations, in particular in non-Ashkenazi patients mainly exhibiting rare mutations...
- Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe diseaseGaelle Douillard-Guilloux
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
J Gene Med 11:279-87. 2009..We investigated for the first time the use of hematopoietic stem cell (HSC) gene therapy in a murine model of GSDII...
- Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women. In reference to pharmacovigilancePhilippe Mougenot
Department of Clinical Pharmacy, Bichat Claude Bernard University Hospital AP HP, Paris, France
Eur J Clin Pharmacol 64:635-9. 2008..An adverse effect caused by the treatment was suspected; therefore we informed the French pharmacovigilance authorities about these two events...
- Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestationsCristina Drugan
Department of Biochemistry, University of Medicine and Pharmacy Cluj Napoca, Romania
Eur J Hum Genet 10:511-5. 2002..The particularities of genotype-phenotype correlations may suggest the impact of other genetic or non-genetic factors on the clinical picture...
- The pulvinar sign: frequency and clinical correlations in Fabry diseaseAlessandro P Burlina
Dept of Neuroscience, Neurological Clinic, University Hospital of Padova, Italy
J Neurol 255:738-44. 2008..The purpose of our study was to investigate the presence of the increased pulvinar signal intensity on T1-weighted imaging - pulvinar sign and its relationship with other clinical findings, in a non-selected cohort of Fabry patients...
- Dystonia and parkinsonism in GM1 type 3 gangliosidosisEmmanuel Roze
Department of Neurology, Saint Antoine Hospital AP HP Paris, France
Mov Disord 20:1366-9. 2005..GM1 gangliosidosis must be considered as a cause of early-onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia...
- Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiencyClaire Wary
AFM CEA NMR Laboratory, Institut de Myologie, IFR14, G H Pitié Salpêtrière, 75651 Paris Cedex 13, France
Neuromuscul Disord 13:545-53. 2003..It may also offer an appropriate tool to study the role of glycogen accumulation in progression of the pathology...
- Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girlMarie Cecile Nassogne
Service de Maladies Métaboliques, Neurologie et Génétique, Hopital Cochin, Paris, France
AJNR Am J Neuroradiol 24:840-2. 2003..Enzyme study revealed deficiency of hexosaminidase A, variant B1. Gangliosidoses should be considered in the differential diagnosis of isolated infiltrating brain stem lesions in childhood...
- Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?Salim Atrouni
Service de Neurologie, Hôpital Makassed, Beirut, Lebanon
Am J Med Genet A 118:76-81. 2003..Differential diagnosis and the possibility of a fortuitous association or the report of a hitherto unreported dento-leukoencephalopathy are discussed...
- Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher diseaseCristina Drugan
Department of Biochemistry, University of Medicine and Pharmacy Cluj, Romania
Blood Cells Mol Dis 28:13-20. 2002....