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Stephan Kemp

Showing results (61-70 of 107) with videos related to

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Journal of Inherited Metabolic Disease|February 7, 2019
Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics eraRonald J A Wanders, Frederic M Vaz, Sacha Ferdinandusse, et al.
Plos One|January 10, 2013
X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patientsCyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, et al.
Human Gene Therapy|October 26, 2018
Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for AdrenomyeloneuropathyYi Gong, Anna Berenson, Fiza Laheji, et al.
JIMD Reports|June 22, 2018
Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked AdrenoleukodystrophyMasashi Morita, Shun Matsumoto, Airi Sato, et al.
Journal of Neuroimmunology|June 19, 2024
Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophyAshish O Gupta, Justin W Furcich, David R Nascene, et al.
Biochemical and Biophysical Research Communications|January 18, 2006
A novel cell model to study the function of the adrenoleukodystrophy-related proteinFabien Gueugnon, Natalia Volodina, Jaoued Et Taouil, et al.
EMBO Molecular Medicine|February 19, 2010
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophyRob Ofman, Inge M E Dijkstra, Carlo W T van Roermund, et al.
Frontiers in Cell and Developmental Biology|September 9, 2020
Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal DisordersYorrick R J Jaspers, Sacha Ferdinandusse, Inge M E Dijkstra, et al.
Journal of Medical Genetics|May 15, 2012
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β geneMerel S Ebberink, Janet Koster, Gepke Visser, et al.
Biochimica Et Biophysica Acta|July 19, 2016
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acidsCatherine E van Engen, Rob Ofman, Inge M E Dijkstra, et al.
Pageof 11

Showing results (61-70 of 107) with videos related to

Sort By:
Pageof 11
Journal of Inherited Metabolic Disease|February 7, 2019
Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics eraRonald J A Wanders, Frederic M Vaz, Sacha Ferdinandusse, et al.
Plos One|January 10, 2013
X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patientsCyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, et al.
Human Gene Therapy|October 26, 2018
Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for AdrenomyeloneuropathyYi Gong, Anna Berenson, Fiza Laheji, et al.
JIMD Reports|June 22, 2018
Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked AdrenoleukodystrophyMasashi Morita, Shun Matsumoto, Airi Sato, et al.
Journal of Neuroimmunology|June 19, 2024
Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophyAshish O Gupta, Justin W Furcich, David R Nascene, et al.
Biochemical and Biophysical Research Communications|January 18, 2006
A novel cell model to study the function of the adrenoleukodystrophy-related proteinFabien Gueugnon, Natalia Volodina, Jaoued Et Taouil, et al.
EMBO Molecular Medicine|February 19, 2010
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophyRob Ofman, Inge M E Dijkstra, Carlo W T van Roermund, et al.
Frontiers in Cell and Developmental Biology|September 9, 2020
Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal DisordersYorrick R J Jaspers, Sacha Ferdinandusse, Inge M E Dijkstra, et al.
Journal of Medical Genetics|May 15, 2012
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β geneMerel S Ebberink, Janet Koster, Gepke Visser, et al.
Biochimica Et Biophysica Acta|July 19, 2016
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acidsCatherine E van Engen, Rob Ofman, Inge M E Dijkstra, et al.
Pageof 11