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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 era
Ronald 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 patients
Cyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, et al.
Human Gene Therapy
|
October 26, 2018
Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy
Yi 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 Adrenoleukodystrophy
Masashi Morita, Shun Matsumoto, Airi Sato, et al.
Journal of Neuroimmunology
|
June 19, 2024
Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophy
Ashish 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 protein
Fabien 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 adrenoleukodystrophy
Rob 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 Disorders
Yorrick 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 gene
Merel 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 acids
Catherine E van Engen, Rob Ofman, Inge M E Dijkstra, et al.
Page
of 11
Search research articles
Search
Showing results (61-70 of 107) with videos related to
Sort By:
Page
of 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 era
Ronald 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 patients
Cyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, et al.
Human Gene Therapy
|
October 26, 2018
Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy
Yi 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 Adrenoleukodystrophy
Masashi Morita, Shun Matsumoto, Airi Sato, et al.
Journal of Neuroimmunology
|
June 19, 2024
Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophy
Ashish 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 protein
Fabien 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 adrenoleukodystrophy
Rob 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 Disorders
Yorrick 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 gene
Merel 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 acids
Catherine E van Engen, Rob Ofman, Inge M E Dijkstra, et al.
Page
of 11