Results 21 to 30 of about 14,971 (151)
Mild phenotype in an adult male with X-linked adrenoleukodystrophy – case report
, 2015 Key Clinical Message X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of ...
Jørum, Ellen +7 more
core +2 more sources
Clinical and Genetic Analysis of Adrenoleukodystrophy in Adults
罕见病研究, 2022 Objective Adrenoleukodystrophy (ALD) is the most common peroxisomal diseases with high clinical and genetic heterogeneity. Our study is to analyze the phenotype and genotype characteristics of adult patients with ALD. Methods A total of 18 adult patients
WANG Mengwen, WU Chujun, ZHANG Zaiqiang
doaj +1 more source
Adrenoleukodystrophy: A Rare Clinical Scenario [PDF]
Indian Journal of Private PsychiatryBackground: 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
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
International Journal of Neonatal Screening, 2021 X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder.
Jamie Matteson +5 more
doaj +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 +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 +5 more
doaj +1 more source
X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
Revista Paulista de PediatriaObjective: 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 +4 more
doaj +1 more source
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 +3 more
doaj
, 1998 International audienceThe adrenoleukodystrophy and adrenoleukodystrophy related proteins belong to a new family of half ATP-binding cassette transporters which are localized within the peroxisomal membrane and whose functions are still unknown.
Aubourg, Patrick +5 more
core +1 more source