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Patricia Dubot

Showing results (1-10 of 16) with videos related to

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Journal of Inherited Metabolic Disease|May 6, 2024
Human genetic defects of sphingolipid synthesisPatricia Dubot, Frédérique Sabourdy, Thierry Levade
Clinical Genetics|May 29, 2025
Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in MiceÉliane Beauregard-Lacroix, Patricia Dubot, Alexey V Pshezhetsky, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 26, 2019
Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnosesPatricia Dubot, Frédérique Sabourdy, Jitka Rybova, et al.
Clinical Chemistry|October 3, 2022
Dyslipidemia: Are You Sure It Is Cholesterol?Patricia Dubot, Frédérique Sabourdy, Thibaut Jamme, et al.
Practical Laboratory Medicine|January 10, 2019
Sweat chloride quantification using capillary electrophoresisPatricia Dubot, Jing Liang, Jacobé Dubs, et al.
Cancers|February 23, 2020
Are Glucosylceramide-Related Sphingolipids Involved in the Increased Risk for Cancer in Gaucher Disease Patients? Review and HypothesesPatricia Dubot, Leonardo Astudillo, Nicole Therville, et al.
International Journal of Molecular Sciences|October 31, 2019
First Report of a Patient with MPS Type VII, Due to Novel Mutations in <i>GUSB</i>, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell TransplantationPatricia Dubot, Frédérique Sabourdy, Geneviève Plat, et al.
JIMD Reports|June 27, 2019
Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected motherPatricia Dubot, Léonardo Astudillo, Guy Touati, et al.
Biochimica Et Biophysica Acta|February 10, 2015
Monogenic neurological disorders of sphingolipid metabolismFrédérique Sabourdy, Leonardo Astudillo, Céline Colacios, et al.
Parkinsonism & Related Disorders|July 19, 2021
A diagnosis of progressive myoclonic ataxia guided by blood biomarkersPatricia Dubot, Marie Rafiq, Jonathan Curot, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Journal of Inherited Metabolic Disease|May 6, 2024
Human genetic defects of sphingolipid synthesisPatricia Dubot, Frédérique Sabourdy, Thierry Levade
Clinical Genetics|May 29, 2025
Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in MiceÉliane Beauregard-Lacroix, Patricia Dubot, Alexey V Pshezhetsky, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 26, 2019
Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnosesPatricia Dubot, Frédérique Sabourdy, Jitka Rybova, et al.
Clinical Chemistry|October 3, 2022
Dyslipidemia: Are You Sure It Is Cholesterol?Patricia Dubot, Frédérique Sabourdy, Thibaut Jamme, et al.
Practical Laboratory Medicine|January 10, 2019
Sweat chloride quantification using capillary electrophoresisPatricia Dubot, Jing Liang, Jacobé Dubs, et al.
Cancers|February 23, 2020
Are Glucosylceramide-Related Sphingolipids Involved in the Increased Risk for Cancer in Gaucher Disease Patients? Review and HypothesesPatricia Dubot, Leonardo Astudillo, Nicole Therville, et al.
International Journal of Molecular Sciences|October 31, 2019
First Report of a Patient with MPS Type VII, Due to Novel Mutations in <i>GUSB</i>, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell TransplantationPatricia Dubot, Frédérique Sabourdy, Geneviève Plat, et al.
JIMD Reports|June 27, 2019
Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected motherPatricia Dubot, Léonardo Astudillo, Guy Touati, et al.
Biochimica Et Biophysica Acta|February 10, 2015
Monogenic neurological disorders of sphingolipid metabolismFrédérique Sabourdy, Leonardo Astudillo, Céline Colacios, et al.
Parkinsonism & Related Disorders|July 19, 2021
A diagnosis of progressive myoclonic ataxia guided by blood biomarkersPatricia Dubot, Marie Rafiq, Jonathan Curot, et al.
Pageof 2