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Stephan Kemp

Showing results (91-100 of 107) with videos related to

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Molecular Genetics and Metabolism|November 2, 2017
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophyIrene C Huffnagel, Malu-Clair van de Beek, Amanda L Showers, et al.
Human Molecular Genetics|June 16, 2009
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorderRolf J R J Janssen, Felix Distelmaier, Roel Smeets, et al.
Molecular Therapy. Methods & Clinical Development|November 11, 2024
An <i>in vitro</i> and <i>in vivo</i> efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPsVidyullatha Vasireddy, Casey A Maguire, David W Anderson, et al.
The Journal of Clinical Investigation|March 10, 2021
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophyQuentin Raas, Malu-Clair van de Beek, Sonja Forss-Petter, et al.
Communications Medicine|September 10, 2024
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophyYorrick R J Jaspers, Hemmo A F Yska, Caroline G Bergner, et al.
Genes|December 24, 2021
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the <i>ABCD1</i> GeneStephanie I W van de Stadt, Petra A W Mooyer, Inge M E Dijkstra, et al.
Journal of Inherited Metabolic Disease|February 9, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked AdrenoleukodystrophyTroy C Lund, Kelly Miettunen, Yorrick R J Jaspers, et al.
Cell Reports. Medicine|January 17, 2024
The impact of bed rest on human skeletal muscle metabolismMoritz Eggelbusch, Braeden T Charlton, Alessandra Bosutti, et al.
Journal of Inherited Metabolic Disease|December 29, 2020
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelinesEric J Mallack, Bela R Turk, Helena Yan, et al.
Journal of Inherited Metabolic Disease|October 18, 2022
Sex-specific newborn screening for X-linked adrenoleukodystrophyMonique Albersen, Samantha L van der Beek, Inge M E Dijkstra, et al.
Pageof 11

Showing results (91-100 of 107) with videos related to

Sort By:
Pageof 11
Molecular Genetics and Metabolism|November 2, 2017
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophyIrene C Huffnagel, Malu-Clair van de Beek, Amanda L Showers, et al.
Human Molecular Genetics|June 16, 2009
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorderRolf J R J Janssen, Felix Distelmaier, Roel Smeets, et al.
Molecular Therapy. Methods & Clinical Development|November 11, 2024
An <i>in vitro</i> and <i>in vivo</i> efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPsVidyullatha Vasireddy, Casey A Maguire, David W Anderson, et al.
The Journal of Clinical Investigation|March 10, 2021
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophyQuentin Raas, Malu-Clair van de Beek, Sonja Forss-Petter, et al.
Communications Medicine|September 10, 2024
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophyYorrick R J Jaspers, Hemmo A F Yska, Caroline G Bergner, et al.
Genes|December 24, 2021
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the <i>ABCD1</i> GeneStephanie I W van de Stadt, Petra A W Mooyer, Inge M E Dijkstra, et al.
Journal of Inherited Metabolic Disease|February 9, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked AdrenoleukodystrophyTroy C Lund, Kelly Miettunen, Yorrick R J Jaspers, et al.
Cell Reports. Medicine|January 17, 2024
The impact of bed rest on human skeletal muscle metabolismMoritz Eggelbusch, Braeden T Charlton, Alessandra Bosutti, et al.
Journal of Inherited Metabolic Disease|December 29, 2020
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelinesEric J Mallack, Bela R Turk, Helena Yan, et al.
Journal of Inherited Metabolic Disease|October 18, 2022
Sex-specific newborn screening for X-linked adrenoleukodystrophyMonique Albersen, Samantha L van der Beek, Inge M E Dijkstra, et al.
Pageof 11