The changing face of adrenoleukodystrophy
J Zhu, F Eichler, A Biffi, CN Duncan… - Endocrine …, 2020 - academic.oup.com
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 …
mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that …
Disease progression in women with X-linked adrenoleukodystrophy is slow
IC Huffnagel, MGW Dijkgraaf, GE Janssens… - Orphanet Journal of …, 2019 - Springer
Background Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal
cord disease in adulthood for which treatment is supportive only. For future clinical trials …
cord disease in adulthood for which treatment is supportive only. For future clinical trials …
Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness
IC Huffnagel, WJC van Ballegoij, BM van Geel… - Brain, 2019 - academic.oup.com
Males with adrenoleukodystrophy develop progressive myelopathy causing severe disability
later in life. No treatment is currently available, but new disease-modifying therapies are …
later in life. No treatment is currently available, but new disease-modifying therapies are …
Self‐reported quality of life in symptomatic and asymptomatic women with X‐linked adrenoleukodystrophy
L Schäfer, H Roicke, CC Bergner… - Brain and Behavior, 2023 - Wiley Online Library
Background Up to 80% of women with X‐linked adrenoleukodystrophy (X‐ALD) develop
symptoms of myelopathy and peripheral neuropathy during their lifetime. The study's …
symptoms of myelopathy and peripheral neuropathy during their lifetime. The study's …
[HTML][HTML] Restless legs syndrome in X-linked adrenoleukodystrophy
JW Winkelman, NR Grant, F Molay, CD Stephen… - Sleep medicine, 2022 - Elsevier
Objective/background X-linked adrenoleukodystrophy (ALD) is a neurodegenerative
disease that causes progressive gait and balance problems. Leg discomfort, sleep …
disease that causes progressive gait and balance problems. Leg discomfort, sleep …
Inflammatory profile in X‐linked adrenoleukodystrophy patients: Understanding disease progression
DP Marchetti, B Donida, CE Jacques… - Journal of Cellular …, 2018 - Wiley Online Library
Abstract X‐linked adrenoleukodystrophy (X‐ALD) is an inherited disease characterized by
progressive inflammatory demyelization in the brain, adrenal insufficiency, and an abnormal …
progressive inflammatory demyelization in the brain, adrenal insufficiency, and an abnormal …
Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China
M Jiang, Y Cai, C Liang, M Peng, H Sheng, L Fan… - Metabolic brain …, 2015 - Springer
X-linked adrenoleukodystrophy is a common X-linked recessive peroxisomal disorder
caused by the mutations in the ABCD1 gene. In this study, we analyzed 19 male patients …
caused by the mutations in the ABCD1 gene. In this study, we analyzed 19 male patients …
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers
R Campopiano, C Femiano, MA Chiaravalloti… - Genes, 2021 - mdpi.com
X-linked adrenoleukodystrophy (X-ALD, OMIM# 300100) is the most common peroxisomal
disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) …
disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) …
[PDF][PDF] A Large Family with p. Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers. Genes 2021; 12: 775
R Campopiano, C Femiano, MA Chiaravalloti… - 2021 - academia.edu
X-linked adrenoleukodystrophy (X-ALD, OMIM# 300100) is the most common peroxisomal
disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) …
disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) …
[PDF][PDF] X-LINKED ADRENOLEUKODYSTROPHY: CLINICAL CHARACTERISTICS, DIAGNOSIS AND MANAGEMENT
C Koniari, G Koutsis - Αρχεία Κλινικής Νευρολογίας, 2022 - jneurology.gr
Adrenoleukodystrophy (X-ALD) is a rare X-linked peroxisomal disease, which usually
presents in affected males with one of three phenotypes: adult-onset …
presents in affected males with one of three phenotypes: adult-onset …