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Roseline Froissart

Showing results (11-20 of 62) with videos related to

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Rapid Communications in Mass Spectrometry : RCM|April 4, 2017
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidosesMonique Piraud, Magali Pettazzoni, Louise Menegaut, et al.
Orphanet Journal of Rare Diseases|July 2, 2014
Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological modelMarie Vigan, Jérôme Stirnemann, Catherine Caillaud, et al.
The FEBS Journal|June 16, 2010
Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residuesCees Bruggink, Ben J H M Poorthuis, Monique Piraud, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|November 13, 2004
Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatumArnaud Cressant, Nathalie Desmaris, Lucie Verot, et al.
Gene|December 26, 2012
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body diseaseLinda Dainese, Marie-Lorraine Monin, Sophie Demeret, et al.
Diagnostic Pathology|May 25, 2011
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type IILatifa Chkioua, Souhir Khedhiri, Salima Ferchichi, et al.
Diagnostic Pathology|April 28, 2011
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphismsLatifa Chkioua, Souhir Khedhiri, Asma Kassab, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 10, 2014
Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 MutationLinda Dainese, Nicolas Adam, Sabah Boudjemaa, et al.
Diagnostic Pathology|June 19, 2016
Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutationLatifa Chkioua, Souhir Khedhiri, Hind Hafsi, et al.
Journal of Inherited Metabolic Disease|June 29, 2023
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019Domitille Laur, Samia Pichard, Soumeya Bekri, et al.
Pageof 7

Showing results (11-20 of 62) with videos related to

Sort By:
Pageof 7
Rapid Communications in Mass Spectrometry : RCM|April 4, 2017
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidosesMonique Piraud, Magali Pettazzoni, Louise Menegaut, et al.
Orphanet Journal of Rare Diseases|July 2, 2014
Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological modelMarie Vigan, Jérôme Stirnemann, Catherine Caillaud, et al.
The FEBS Journal|June 16, 2010
Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residuesCees Bruggink, Ben J H M Poorthuis, Monique Piraud, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|November 13, 2004
Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatumArnaud Cressant, Nathalie Desmaris, Lucie Verot, et al.
Gene|December 26, 2012
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body diseaseLinda Dainese, Marie-Lorraine Monin, Sophie Demeret, et al.
Diagnostic Pathology|May 25, 2011
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type IILatifa Chkioua, Souhir Khedhiri, Salima Ferchichi, et al.
Diagnostic Pathology|April 28, 2011
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphismsLatifa Chkioua, Souhir Khedhiri, Asma Kassab, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 10, 2014
Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 MutationLinda Dainese, Nicolas Adam, Sabah Boudjemaa, et al.
Diagnostic Pathology|June 19, 2016
Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutationLatifa Chkioua, Souhir Khedhiri, Hind Hafsi, et al.
Journal of Inherited Metabolic Disease|June 29, 2023
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019Domitille Laur, Samia Pichard, Soumeya Bekri, et al.
Pageof 7