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Journal of Inherited Metabolic Disease
|
October 27, 2025
An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked Adrenoleukodystrophy
Eda G Kabak, Fenna van Dodewaard, Stefan D Roosendaal, et al.
Molecular Genetics and Metabolism Reports
|
May 7, 2020
Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome
Eva M M Hoytema van Konijnenburg, Ilse K Luirink, Sebastian E E Schagen, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2017
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K
Sara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 26, 2018
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration
Irene C Huffnagel, Fiza K Laheji, Razina Aziz-Bose, et al.
Neurology
|
May 24, 2022
Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment
Eric James Mallack, Keith P Van Haren, Anna Torrey, et al.
Orphanet Journal of Rare Diseases
|
September 16, 2019
Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI
Noortje J M L Buermans, Sharon J G van den Bosch, Irene C Huffnagel, et al.
Molecular Genetics and Metabolism
|
April 13, 2016
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics
Martin J A Schackmann, Rob Ofman, Björn M van Geel, et al.
Brain Communications
|
October 13, 2025
Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy
Hemmo A F Yska, Menno D Stellingwerff, Stefan D Roosendaal, et al.
Orphanet Journal of Rare Diseases
|
February 9, 2019
Disease progression in women with X-linked adrenoleukodystrophy is slow
Irene C Huffnagel, Marcel G W Dijkgraaf, Georges E Janssens, et al.
Annals of Clinical and Translational Neurology
|
October 13, 2020
Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy
Wouter J C van Ballegoij, Stephanie I W van de Stadt, Irene C Huffnagel, et al.
Page
of 14
Search research articles
Search
Showing results (61-70 of 137) with videos related to
Sort By:
Page
of 14
Journal of Inherited Metabolic Disease
|
October 27, 2025
An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked Adrenoleukodystrophy
Eda G Kabak, Fenna van Dodewaard, Stefan D Roosendaal, et al.
Molecular Genetics and Metabolism Reports
|
May 7, 2020
Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome
Eva M M Hoytema van Konijnenburg, Ilse K Luirink, Sebastian E E Schagen, et al.
Journal of Inherited Metabolic Disease
|
November 16, 2017
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K
Sara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 26, 2018
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration
Irene C Huffnagel, Fiza K Laheji, Razina Aziz-Bose, et al.
Neurology
|
May 24, 2022
Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment
Eric James Mallack, Keith P Van Haren, Anna Torrey, et al.
Orphanet Journal of Rare Diseases
|
September 16, 2019
Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI
Noortje J M L Buermans, Sharon J G van den Bosch, Irene C Huffnagel, et al.
Molecular Genetics and Metabolism
|
April 13, 2016
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics
Martin J A Schackmann, Rob Ofman, Björn M van Geel, et al.
Brain Communications
|
October 13, 2025
Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy
Hemmo A F Yska, Menno D Stellingwerff, Stefan D Roosendaal, et al.
Orphanet Journal of Rare Diseases
|
February 9, 2019
Disease progression in women with X-linked adrenoleukodystrophy is slow
Irene C Huffnagel, Marcel G W Dijkgraaf, Georges E Janssens, et al.
Annals of Clinical and Translational Neurology
|
October 13, 2020
Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy
Wouter J C van Ballegoij, Stephanie I W van de Stadt, Irene C Huffnagel, et al.
Page
of 14