Results 41 to 50 of about 19,093 (232)

Self‐reported quality of life in symptomatic and asymptomatic women with X‐linked adrenoleukodystrophy

Brain and Behavior, 2023
Up to 80% of women with X‐linked adrenoleukodystrophy (X‐ALD) develop symptoms of myelopathy and peripheral neuropathy during their lifetime. The study's objective was to compare symptomatic versus asymptomatic women with X‐ALD regarding their physical ...
Lisa Schäfer, Hannes Roicke, C. Bergner, W. Köhler   +3 more
semanticscholar   +1 more source

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy

Expert Opinion on Biological Therapy, 2022
Introduction Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with an incidence of 1 in 14–17,000 male births, caused by pathogenic variants within the ABCD1 gene.
Ashish O. Gupta, G. Raymond, Rene I Pierpont, S. Kemp, R. McIvor, Arpana Rayannavar, B. Miller, T. Lund, P. Orchard   +8 more
semanticscholar   +1 more source

Mild phenotype in an adult male with X-linked adrenoleukodystrophy – case report [PDF]

, 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, Wanders, Ronald J. A., Horn, Morten A., Mikaelsen, Karin B. M., Retterstøl, Lars, Ferdinandusse, Sacha, Tallaksen, Chantal M. E., Mellgren, Svein I.   +7 more
core   +3 more sources

Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability

Frontiers in Neurology, 2022
ObjectivesThis study aimed to describe the clinical and radiological characteristics of a cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD).MethodsThree affected members from a family with cerebellar ataxia received full ...
Jae-Hwan Choi, Jae-Hwan Choi, Hyun Sung Kim, Eun Hye Oh, Jae Hyeok Lee, Jae Hyeok Lee, Chong Kun Cheon, Chong Kun Cheon   +7 more
doaj   +1 more source

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

Journal of Inherited Metabolic Disease, 2022
Males with X‐linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age.
M. Albersen, Samantha L. van der Beek, Inge M. E. Dijkstra, M. Alders, Rinse W. Barendsen, J. Bliek, A. Boelen, M. Ebberink, S. Ferdinandusse, S. Goorden, A. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, I. Metgod, G. Salomons, F. Vaz, R. Verschoof-Puite, W. Visser, E. Dekkers, M. Engelen, S. Kemp   +20 more
semanticscholar   +1 more source

Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

International Journal of Neonatal Screening, 2022
Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals.
Ann B. Moser, Elisa Seeger, Gerald V. Raymond   +2 more
doaj   +1 more source

Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective

International Journal of Neonatal Screening, 2023
Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA).
Julia Prinzi, Marzia Pasquali, Judith A. Hobert, Rachel Palmquist, Kristen N. Wong, Stephanie Francis, Irene De Biase   +6 more
doaj   +1 more source

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES [PDF]

, 2019
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 (6878945), Macleise Andres Lemes (6878948), Ligia Cecilia Fuverki Suguimatsu (6878951), Mara Lucia Schmitz Ferreira Santos (6878957), Carolina Teixeira Furquim Pires (6878954)   +4 more
core   +3 more sources

Adrenoleukodystrophy. literature review and case study. [PDF]

, 2023
X–linked adrenoleukodystrophy is a rare peroxisomal disease inherited with X chromosome. The disease damages tissues in the brain and adrenal glands. X–linked adrenoleukodystrophy is caused by a mutation in the ABCD1 gene which impairs a degradation of ...
Regelskytė, Laura,
core  

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