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Roseline Froissart

Showing results (1-10 of 62) with videos related to

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JIMD Reports|September 10, 2019
A rare late progression form of Sly syndrome mucopolysaccharidosisNathalie Guffon, Roseline Froissart, Alain Fouilhoux
Acta Paediatrica (Oslo, Norway : 1992)|March 30, 2007
Mucopolysaccharidosis type II: an update on mutation spectrumRoseline Froissart, Isabel Moreira Da Silva, Irène Maire
Muscle & Nerve|January 26, 2017
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormiaChrystel Chéraud, Roseline Froissart, Béatrice Lannes, et al.
The Journal of Pediatrics|January 27, 2009
Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 yearsNathalie Guffon, Yves Bertrand, Isabelle Forest, et al.
Molecular Genetics and Metabolism|March 19, 2025
Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohortRoseline Froissart, Magali Pettazzoni, Cécile Pagan, et al.
Journal of Clinical Medicine|November 13, 2021
Prevalence of Cancer in Acid Sphingomyelinase DeficiencyWladimir Mauhin, Thierry Levade, Marie T Vanier, et al.
JIMD Reports|April 11, 2014
Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthoodOlivier Lidove, Frédéric Sedel, Frédéric Charlotte, et al.
Molecular Genetics and Metabolism|December 19, 2003
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasmaRoseline Froissart, Nathalie Guffon, Marie T Vanier, et al.
Molecular Genetics and Metabolism|March 3, 2006
Electron transfer flavoprotein deficiency: functional and molecular aspectsManuel Schiff, Roseline Froissart, Rikke K J Olsen, et al.
Human Mutation|October 1, 2003
Molecular pathology of NEU1 gene in sialidosisVolkan Seyrantepe, Helena Poupetova, Roseline Froissart, et al.
Pageof 7

Showing results (1-10 of 62) with videos related to

Sort By:
Pageof 7
JIMD Reports|September 10, 2019
A rare late progression form of Sly syndrome mucopolysaccharidosisNathalie Guffon, Roseline Froissart, Alain Fouilhoux
Acta Paediatrica (Oslo, Norway : 1992)|March 30, 2007
Mucopolysaccharidosis type II: an update on mutation spectrumRoseline Froissart, Isabel Moreira Da Silva, Irène Maire
Muscle & Nerve|January 26, 2017
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormiaChrystel Chéraud, Roseline Froissart, Béatrice Lannes, et al.
The Journal of Pediatrics|January 27, 2009
Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 yearsNathalie Guffon, Yves Bertrand, Isabelle Forest, et al.
Molecular Genetics and Metabolism|March 19, 2025
Acid sphingomyelinase deficiency: Laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohortRoseline Froissart, Magali Pettazzoni, Cécile Pagan, et al.
Journal of Clinical Medicine|November 13, 2021
Prevalence of Cancer in Acid Sphingomyelinase DeficiencyWladimir Mauhin, Thierry Levade, Marie T Vanier, et al.
JIMD Reports|April 11, 2014
Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthoodOlivier Lidove, Frédéric Sedel, Frédéric Charlotte, et al.
Molecular Genetics and Metabolism|December 19, 2003
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasmaRoseline Froissart, Nathalie Guffon, Marie T Vanier, et al.
Molecular Genetics and Metabolism|March 3, 2006
Electron transfer flavoprotein deficiency: functional and molecular aspectsManuel Schiff, Roseline Froissart, Rikke K J Olsen, et al.
Human Mutation|October 1, 2003
Molecular pathology of NEU1 gene in sialidosisVolkan Seyrantepe, Helena Poupetova, Roseline Froissart, et al.
Pageof 7