Results 41 to 50 of about 1,447 (169)
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
The Application of Clinical Genetics, 2022 Alyssa M Volmrich,1 Lauren M Cuénant,1 Irman Forghani,2 Sharon L Hsieh,3 Lauren T Shapiro1 1Department of Physical Medicine & Rehabilitation, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Human Genetics, University of ...
Volmrich AM +4 more
doaj
A Novel Missense Variant of the ABCD1 Gene in X‐Linked Adrenoleukodystrophy in Chinese Family
Molecular Genetics &Genomic Medicine, Volume 13, Issue 10, October 2025.This study identifies a novel ABCD1 gene variant (c.773T>G, p.Leu258Arg) linked to X‐linked adrenoleukodystrophy in a Chinese family, demonstrating its pathogenic impact via disrupted peroxisomal localization and impaired fatty acid metabolism, thus expanding the mutation spectrum and advancing molecular diagnosis and familial genetic counseling ...
Hongxia Fu +5 more
wiley +1 more source
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study
Annals of the Child Neurology Society, Volume 3, Issue 3, Page 176-187, September 2025.ABSTRACT Importance Leukodystrophies are a diverse group of rare disorders that disrupt central myelination. These disorders present with a broad spectrum of neurological severity and are associated with a range of potential secondary complications, such as scoliosis and failure of independent feeding.
Emma R. Kotes +31 more
wiley +1 more source
Management of X-linked adrenoleukodystrophy in Morocco: actual situation
BMC Research Notes, 2017 Objectives X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of
F. Z. Madani Benjelloun +4 more
doaj +1 more source
British Journal of Pharmacology, Volume 182, Issue 17, Page 4134-4146, September 2025.Abstract Background and Purpose Nervonic acid plays a vital role in maintaining normal brain and neuronal function. Nervonic acid has gained increasing attention because of its potential neuroprotective and anti‐inflammatory properties. Nonetheless, the beneficial effects of nervonic acid are yet to be fully investigated. Adrenomyeloneuropathy (AMN), a
Chenxu Li +2 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g., tyrosinemia type I), there are clear and substantial health benefits of NBS, while for others (e.g., very long chain acyl CoA dehydrogenase deficiency and 3 ...
Mirjam Langeveld +9 more
wiley +1 more source
Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5‐Year Update
American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.ABSTRACT Our objectives are to report on the outcomes of adrenal insufficiency (AI) and cerebral ALD (cALD) in children diagnosed with X‐linked adrenoleukodystrophy (ALD) identified by newborn screening (NBS) in Minnesota in the first 5 years following initiation of NBS in 02/2017.
Arpana Rayannavar +10 more
wiley +1 more source
Adrenal Insufficiency Associated Cardiomyopathy, From Molecule to Clinic: A Comprehensive Review
Health Science Reports, Volume 8, Issue 5, May 2025.ABSTRACT Background and Aim Adrenal insufficiency (AI), the lack of glucocorticoids (GCs) production or function with or without a lack of mineralocorticoids (MCs) and adrenal androgens, can result in uncommon but life‐threatening complications like shock, circulatory failure, syncope, arrhythmias, dilated cardiomyopathy (DCM), and congestive heart ...
Narges Bazgir +4 more
wiley +1 more source
BMC Neurology, 2019 Background Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention.
Jie Li +5 more
doaj +1 more source
CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy. [PDF]
PLoS ONE, 2012 X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD).
Mathieu Barbier +9 more
doaj +1 more source