Results 61 to 70 of about 19,093 (232)

Adrenoleukodystrophy in a Nigerian boy: A case report and review of literature

Nigerian Journal of Paediatrics, 2021
Adrenoleukodystrophy (ALD) is a hereditary, X-linked metabolic disorder with autosomal recessive traits. It arises from mutation in ABCD1 gene on chromosome Xq28.
Akowundu Pauline Karachi, Opoola Zainab Aramide, Ibrahim Usman Olaitan, Lesi Foluso Afolab   +3 more
doaj  

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy

New England Journal of Medicine
BACKGROUND Gene therapy with elivaldogene autotemcel (eli-cel) consisting of autologous CD34+ cells transduced with lentiviral vector containing ABCD1 complementary DNA (Lenti-D) has shown efficacy in clinical studies for the treatment of cerebral ...
Christine N Duncan, Jacob R Bledsoe, Bartosz Grzywacz, Amy Beckman, M. Bonner, Florian S. Eichler, Jörn-Sven Kühl, Marian H. Harris, Sarah Slauson, Richard A. Colvin, Vinod K. Prasad, Gerald F Downey, F. J. Pierciey, Melissa A. Kinney, Marianna Foos, Ankit Lodaya, N. Floro, G. Parsons, Andrew C Dietz, Ashish O Gupta, Paul J. Orchard, Himal L. Thakar, David A. Williams   +22 more
semanticscholar   +1 more source

Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie, 2021
X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder associated with mutations of the ABCD1 gene that encodes a peroxisomal transmembrane protein.
C. Ma, Cheng Li, Xiaoya Zhou, Zhao Zhang, Hua Jiang, Hongsheng Liu, H. Chen, H. Tse, Can Liao, Q. Lian   +9 more
semanticscholar   +1 more source

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines

Journal of Inherited Metabolic Disease, 2020
Among boys with X‐Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCALD). CCALD is typically lethal without hematopoietic stem cell transplant before or soon after symptom onset. We sought to establish evidence‐
E. Mallack, Bela Turk, Helena Yan, C. Price, Michelle Demetres Mlis, A. Moser, Catherine Becker, K. Hollandsworth, L. Adang, A. Vanderver, K. Van Haren, M. Ruzhnikov, J. Kurtzberg, G. Maegawa, P. Orchard, T. Lund, G. Raymond, Molly O. Regelmann, J. Orsini, E. Seeger, S. Kemp, F. Eichler, A. Fatemi   +22 more
semanticscholar   +1 more source

Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy

Communications Medicine
X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in plasma and tissues.
Yorrick R. J. Jaspers, H. A. Yska, C. Bergner, Inge M. E. Dijkstra, I. Huffnagel, M. Voermans, E. Wever, G. Salomons, F. M. Vaz, A. Jongejan, Jill Hermans, Rebecca Tryon, Troy C. Lund, W. Köhler, M. Engelen, S. Kemp   +15 more
semanticscholar   +1 more source

The Changing Face of Adrenoleukodystrophy.

Endocrine reviews, 2020
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that includes primary adrenal insufficiency, myelopathy, and cerebral ALD.
Jia Zhu, F. Eichler, A. Biffi, C. Duncan, David A. Williams, J. Majzoub   +5 more
semanticscholar   +1 more source

Visual Pigment Gene Changes in Adrenoleukodystrophy [PDF]

, 2020
Purpose. The gene for X-linked adrenoleukodystrophy, a neurodegenerative disorder, is closely linked to the red/green color pigment genes on the distal X-chromosome Xq28 and one kindred is known to have a genetic change affecting both loci.
/ R, George H Sack, M Kelly, William M Crifjin, Mr Daniel, James C Morrell   +5 more
core  

‐linked adrenoleukodystrophy among adult men with Addison's disease [PDF]

, 2013
ObjectivesX-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men.
Morten A. Horn, Anette S. B. Wolff, Wolff, A. S. B., Skjeldal, Ola H., Ola H. Skjeldal, Husebye, E. S., Jan‐Eric Månsson, Erichsen, M. M., Månsson, Jan-Eric,, Eystein S. Husebye, Horn, M. A., Chantal M. E. Tallaksen, Martina M. Erichsen, Tallaksen, C. M. E.   +13 more
core   +1 more source

Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy

Journal of Neuroinflammation, 2011
Background Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by the abnormal beta-oxidation of very long chain fatty acids (VLCFA).
Orchard Paul J, Lund Troy, Miller Wes, Rothman Steven M, Raymond Gerald, Nascene David, Basso Lisa, Cloyd James, Tolar Jakub   +8 more
doaj   +1 more source

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology

Orphanet Journal of Rare Diseases
Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role is in the disease process.
H. A. Yska, M. Engelen, Marianna Bugiani
semanticscholar   +1 more source