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Monique Piraud

Showing results (11-20 of 32) with videos related to

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Molecular Genetics and Metabolism|June 8, 2011
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studiesAnne Davit-Spraul, Monique Piraud, Dries Dobbelaere, et al.
Molecular Genetics and Metabolism|November 16, 2004
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseasesSteven L Ramsay, Irene Maire, Colleen Bindloss, et al.
Orphanet Journal of Rare Diseases|May 24, 2011
Glucose-6-phosphatase deficiencyRoseline Froissart, Monique Piraud, Alix Mollet Boudjemline, et al.
Journal of the Neurological Sciences|November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body diseaseSégolène Billot, Dominique Hervé, Hasan O Akman, et al.
Journal of Inherited Metabolic Disease|July 10, 2016
Antenatal manifestations of inborn errors of metabolism: biological diagnosisChristine Vianey-Saban, Cécile Acquaviva, David Cheillan, et al.
Journal of Inherited Metabolic Disease|March 21, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disordersMonique Piraud, Magali Pettazzoni, Pamela Lavoie, et al.
Journal of Inherited Metabolic Disease|May 28, 2011
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MSJeroen van den Bosch, Linda F Oemardien, Malgorzata I Srebniak, et al.
Journal of Translational Medicine|September 6, 2018
Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysisAbdellah Tebani, Lenaig Abily-Donval, Isabelle Schmitz-Afonso, et al.
International Journal of Molecular Sciences|January 24, 2019
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional MetabolomicsAbdellah Tebani, Lenaig Abily-Donval, Isabelle Schmitz-Afonso, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2013
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiencyNicolai Preisler, Pascal Laforêt, Andoni Echaniz-Laguna, et al.
Pageof 4

Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|June 8, 2011
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studiesAnne Davit-Spraul, Monique Piraud, Dries Dobbelaere, et al.
Molecular Genetics and Metabolism|November 16, 2004
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseasesSteven L Ramsay, Irene Maire, Colleen Bindloss, et al.
Orphanet Journal of Rare Diseases|May 24, 2011
Glucose-6-phosphatase deficiencyRoseline Froissart, Monique Piraud, Alix Mollet Boudjemline, et al.
Journal of the Neurological Sciences|November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body diseaseSégolène Billot, Dominique Hervé, Hasan O Akman, et al.
Journal of Inherited Metabolic Disease|July 10, 2016
Antenatal manifestations of inborn errors of metabolism: biological diagnosisChristine Vianey-Saban, Cécile Acquaviva, David Cheillan, et al.
Journal of Inherited Metabolic Disease|March 21, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disordersMonique Piraud, Magali Pettazzoni, Pamela Lavoie, et al.
Journal of Inherited Metabolic Disease|May 28, 2011
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MSJeroen van den Bosch, Linda F Oemardien, Malgorzata I Srebniak, et al.
Journal of Translational Medicine|September 6, 2018
Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysisAbdellah Tebani, Lenaig Abily-Donval, Isabelle Schmitz-Afonso, et al.
International Journal of Molecular Sciences|January 24, 2019
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional MetabolomicsAbdellah Tebani, Lenaig Abily-Donval, Isabelle Schmitz-Afonso, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2013
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiencyNicolai Preisler, Pascal Laforêt, Andoni Echaniz-Laguna, et al.
Pageof 4