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Catherine Caillaud

Showing results (11-20 of 86) with videos related to

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Blood Cells, Molecules & Diseases|January 30, 2002
Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher diseaseCristina Drugan, Gheorghe Jebeleanu, Paula Grigorescu-Sido, et al.
Journal of Child Neurology|July 4, 2009
An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patientFaten Tinsa, Catherine Caillaud, Marie Thérèse Vanier, et al.
Biochemical and Biophysical Research Communications|January 27, 2010
Rapid identification of HEXA mutations in Tay-Sachs patientsCarole Giraud, Jeanne Dussau, Emilie Azouguene, et al.
Human Molecular Genetics|September 11, 2008
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type IIGaelle Douillard-Guilloux, Nina Raben, Shoichi Takikita, et al.
European Journal of Human Genetics : EJHG|August 13, 2002
Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestationsCristina Drugan, Lucia Procopciuc, Gheorghe Jebeleanu, et al.
Journal of Neurochemistry|January 31, 2006
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and betaAudrey Arfi, Rivka Zisling, Emmanuel Richard, et al.
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.
Annals of Neurology|July 6, 2004
Prevention of neuropathology in the mouse model of Hurler syndromeNathalie Desmaris, Lucie Verot, Jean Philippe Puech, et al.
Gene|October 11, 2012
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patientsPauline Gaignard, Jérôme Fagart, Natalia Niemir, et al.
Archives of Neurology|January 13, 2006
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiencyFrédéric Sedel, Karen Friderici, Katherine Nummy, et al.
Pageof 9

Showing results (11-20 of 86) with videos related to

Sort By:
Pageof 9
Blood Cells, Molecules & Diseases|January 30, 2002
Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher diseaseCristina Drugan, Gheorghe Jebeleanu, Paula Grigorescu-Sido, et al.
Journal of Child Neurology|July 4, 2009
An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patientFaten Tinsa, Catherine Caillaud, Marie Thérèse Vanier, et al.
Biochemical and Biophysical Research Communications|January 27, 2010
Rapid identification of HEXA mutations in Tay-Sachs patientsCarole Giraud, Jeanne Dussau, Emilie Azouguene, et al.
Human Molecular Genetics|September 11, 2008
Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type IIGaelle Douillard-Guilloux, Nina Raben, Shoichi Takikita, et al.
European Journal of Human Genetics : EJHG|August 13, 2002
Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestationsCristina Drugan, Lucia Procopciuc, Gheorghe Jebeleanu, et al.
Journal of Neurochemistry|January 31, 2006
Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and betaAudrey Arfi, Rivka Zisling, Emmanuel Richard, et al.
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.
Annals of Neurology|July 6, 2004
Prevention of neuropathology in the mouse model of Hurler syndromeNathalie Desmaris, Lucie Verot, Jean Philippe Puech, et al.
Gene|October 11, 2012
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patientsPauline Gaignard, Jérôme Fagart, Natalia Niemir, et al.
Archives of Neurology|January 13, 2006
Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiencyFrédéric Sedel, Karen Friderici, Katherine Nummy, et al.
Pageof 9