Results 51 to 60 of about 19,093 (232)

Adrenoleukodystrophy: A Rare Clinical Scenario [PDF]

Indian Journal of Private Psychiatry
Background: Adrenoleukodystrophy is a genetic disorder involving the peroxisomes, that leads to defects in beta-oxidation and collection of very long-chain fatty acids.
Antara Kunwar, Jitendriya Biswal
doaj   +1 more source

Genetics of X-Linked Adrenoleukodystrophy [PDF]

, 2002
An 8.5-year-old girl with cerebral X-linked adrenoleukodystrophy is reported from Ben-Gurion University, Beer Sheva, Israel, and Johns Hopkins University, Baltimore ...
J Gordon Millichap
core   +1 more source

Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.

Journal of Clinical Investigation, 2021
X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease caused by mutations in ABCD1, the peroxisomal very long-chain fatty acid (VLCFA) transporter. ABCD1 deficiency results in accumulation of saturated VLCFAs. A drug screen using
Q. Raas, Malu-Clair van de Beek, S. Forss-Petter, Inge M. E. Dijkstra, Abigail DeSchiffart, Briana C Freshner, Tamara J. Stevenson, Yorrick R. J. Jaspers, Liselotte M Nagtzaam, R. Wanders, M. van Weeghel, Joo-Yeon Engelen-Lee, M. Engelen, F. Eichler, J. Berger, J. Bonkowsky, S. Kemp   +16 more
semanticscholar   +1 more source

Segmental Optic Atrophy with Adrenoleukodystrophy ABCD1 Gene Variant [PDF]

, 2023
We report a case of Adrenoleukodystrophy ABCD1 gene variant presenting with segmental optic atrophy in a 34-year-old male. The patient presented to our Neuro-Ophthalmology clinic with complaints of defective vision in both eyes, mild headache and ...
Khishigdelger Erdenechuluun, Karthik Kumar, Virna Shah, Sharanya R   +3 more
core   +1 more source

Uptake and metabolism of plasma-derived erucic acid by rat brain

Journal of Lipid Research, 2006
We examined the ability of erucic acid (22:1n-9) to cross the blood-brain barrier (BBB) by infusing [14–14C]22:1n-9 (170 μCi/kg, iv and icv) into awake, male rats. [1-14C]arachidonic acid (20:4n-6) [intravenous (i.v.)] was the positive control. After i.v.
Mikhail Y. Golovko, Eric J. Murphy
doaj   +1 more source

A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder

Journal of General and Family Medicine, 2020
A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract.
Koji Obara, Erika Abe, Nobuyuki Shimozawa, Itaru Toyoshima   +3 more
doaj   +1 more source

Interactions of very long-chain saturated fatty acids with serum albumin

Journal of Lipid Research, 2002
The remarkable binding properties of serum albumin have been investigated extensively, but little is known about an important class of fatty acids, the very long-chain saturated fatty acids (VLCFA; >18 carbons). Although VLCFA are metabolized efficiently
Ji-Kyung Choi, Jet Ho, Stephen Curry, Donghui Qin, Robert Bittman, James A. Hamilton   +5 more
doaj   +1 more source

Time to Transplant in X-linked Adrenoleukodystrophy

Journal of Child Neurology, 2022
Objectives Cerebral X-linked adrenoleukodystrophy (cALD) is an inflammatory demyelination of the brain that can lead to death unless treated by hematopoietic stem cell transplantation.
J. Bonkowsky, Jacob Wilkes
semanticscholar   +1 more source

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES

Revista Paulista de Pediatria
Objective: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. Methods: Specific data related
Fernanda Luiza Schumacher Furlan, Macleise Andres Lemes, Ligia Cecilia Fuverki Suguimatsu, Carolina Teixeira Furquim Pires, Mara Lucia Schmitz Ferreira Santos   +4 more
doaj   +1 more source

Variables affecting outcomes after allogeneic hematopoietic stem cell transplant for cerebral adrenoleukodystrophy

Blood Advances, 2021
Key Points Cerebral adrenoleukodystrophy manifests as progressive inflammatory demyelination leading to neurological function loss and early death. Early allo-HSCT stabilizes cerebral adrenoleukodystrophy progression; TRM remains high, even with improved
R. Chiesa, J. Boelens, C. Duncan, J. Kuehl, C. Sevin, N. Kapoor, V. Prasad, C. Lindemans, Simon A. Jones, Herman M Amartino, M. Algeri, N. Bunin, C. Díaz de Heredia, D. Loes, E. Shamir, A. Timm, E. McNeil, A. Dietz, P. Orchard   +18 more
semanticscholar   +1 more source