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Catherine Caillaud

Showing results (21-30 of 86) with videos related to

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Neurobiology of Disease|December 17, 2009
Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?Lionel Batista, Florence Miller, Céline Clave, 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.
American Journal of Medical Genetics. Part A|November 18, 2008
Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?André Mégarbané, Leila Samaras, Rima Chédid, et al.
Neuromuscular Disorders : NMD|December 17, 2009
Rigid spine syndrome revealing late-onset Pompe diseasePascal Laforêt, Valérie Doppler, Catherine Caillaud, et al.
La Tunisie Medicale|February 17, 2009
[Respiratory distress in infants with Pompe's disease]Monia Khémiri, Marouene Zayani, Olfa Bou Yahya, et al.
Journal of Neurology|February 26, 2008
The pulvinar sign: frequency and clinical correlations in Fabry diseaseAlessandro P Burlina, Renzo Manara, Catherine Caillaud, et al.
BMC Medical Genetics|June 28, 2020
First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry diseaseSophie Greillier, Laurent Daniel, Catherine Caillaud, 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.
Molecular Genetics and Metabolism|November 26, 2015
Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type IJohan Moreau, Anais Brassier, Alessandro Amaddeo, et al.
American Journal of Medical Genetics. Part A|May 1, 2019
Sleep-disordered breathing in children with mucolipidosisLaurence Tabone, Catherine Caillaud, Alessandro Amaddeo, et al.
Pageof 9

Showing results (21-30 of 86) with videos related to

Sort By:
Pageof 9
Neurobiology of Disease|December 17, 2009
Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease?Lionel Batista, Florence Miller, Céline Clave, 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.
American Journal of Medical Genetics. Part A|November 18, 2008
Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?André Mégarbané, Leila Samaras, Rima Chédid, et al.
Neuromuscular Disorders : NMD|December 17, 2009
Rigid spine syndrome revealing late-onset Pompe diseasePascal Laforêt, Valérie Doppler, Catherine Caillaud, et al.
La Tunisie Medicale|February 17, 2009
[Respiratory distress in infants with Pompe's disease]Monia Khémiri, Marouene Zayani, Olfa Bou Yahya, et al.
Journal of Neurology|February 26, 2008
The pulvinar sign: frequency and clinical correlations in Fabry diseaseAlessandro P Burlina, Renzo Manara, Catherine Caillaud, et al.
BMC Medical Genetics|June 28, 2020
First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry diseaseSophie Greillier, Laurent Daniel, Catherine Caillaud, 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.
Molecular Genetics and Metabolism|November 26, 2015
Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type IJohan Moreau, Anais Brassier, Alessandro Amaddeo, et al.
American Journal of Medical Genetics. Part A|May 1, 2019
Sleep-disordered breathing in children with mucolipidosisLaurence Tabone, Catherine Caillaud, Alessandro Amaddeo, et al.
Pageof 9