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Roseline Froissart

Showing results (41-50 of 62) with videos related to

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European Journal of Medical Genetics|February 15, 2012
A new lysosomal storage disorder resembling Morquio syndrome in sibsLaurence Perrin, Odile Fenneteau, Brice Ilharreborde, et al.
European Journal of Human Genetics : EJHG|April 18, 2006
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutationsShunji Tomatsu, Kazuko Sukegawa, Georgeta G Trandafirescu, et al.
Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases|August 5, 2024
Acid sphingomyelinase deficiency in France: a retrospective survival studyWladimir Mauhin, Nathalie Guffon, Marie T Vanier, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and GreeceBénédicte Héron, Yann Mikaeloff, Roseline Froissart, et al.
Journal of Medicinal Chemistry|July 2, 2020
Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter SialinLilian Dubois, Nicolas Pietrancosta, Alexandre Cabaye, et al.
The CRISPR Journal|January 11, 2023
Gene Editing Corrects <i>In Vitro</i> a G > A <i>GLB1</i> Transition from a GM1 Gangliosidosis PatientDelphine Leclerc, Louise Goujon, Sylvie Jaillard, et al.
Annals of Neurology|May 24, 2006
Gene therapy of the brain in the dog model of Hurler's syndromeCarine Ciron, Nathalie Desmaris, Marie-Anne Colle, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.
Clinical Pharmacokinetics|August 22, 2018
Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1Juliette Berger, Marie Vigan, Bruno Pereira, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
European Journal of Medical Genetics|February 15, 2012
A new lysosomal storage disorder resembling Morquio syndrome in sibsLaurence Perrin, Odile Fenneteau, Brice Ilharreborde, et al.
European Journal of Human Genetics : EJHG|April 18, 2006
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutationsShunji Tomatsu, Kazuko Sukegawa, Georgeta G Trandafirescu, et al.
Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases|August 5, 2024
Acid sphingomyelinase deficiency in France: a retrospective survival studyWladimir Mauhin, Nathalie Guffon, Marie T Vanier, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and GreeceBénédicte Héron, Yann Mikaeloff, Roseline Froissart, et al.
Journal of Medicinal Chemistry|July 2, 2020
Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter SialinLilian Dubois, Nicolas Pietrancosta, Alexandre Cabaye, et al.
The CRISPR Journal|January 11, 2023
Gene Editing Corrects <i>In Vitro</i> a G > A <i>GLB1</i> Transition from a GM1 Gangliosidosis PatientDelphine Leclerc, Louise Goujon, Sylvie Jaillard, et al.
Annals of Neurology|May 24, 2006
Gene therapy of the brain in the dog model of Hurler's syndromeCarine Ciron, Nathalie Desmaris, Marie-Anne Colle, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.
Clinical Pharmacokinetics|August 22, 2018
Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1Juliette Berger, Marie Vigan, Bruno Pereira, et al.
Pageof 7