Results 31 to 40 of about 1,386 (146)

X-linked adrenoleukodystrophy

, 2021
Introduction. X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder that manifests in extensive involvement of adrenal glands and white matter of the central nervous system (CNS). The cerebral form of X-ALD predominantly affects boys between ages four and eight years and includes progressive impairment of cognitive functions, behavior, motor
openaire   +3 more sources

Adrenoleukodystrophy [PDF]

Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2016
Introduction: Adrenoleukodystrophy (ALD) is a disease characterized by the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and
Nišić Tatjana, Ćirić Jasmina, Dragašević-Mišković N., Stojanović Miloš, Beleslin Biljana, Stojković Mirjana, Savić Slavica, Lalić Tijana, Barać M., Žarković Miloš   +9 more
doaj   +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

Identification of the Occipito-Pontine Tract Using Diffusion-Tensor Fiber Tracking in Adult-Onset Adrenoleukodystrophy with Topographic Disorientation

Case Reports in Neurology, 2011
X-linked adrenoleukodystrophy is a severe and progressive neurodegenerative disease caused by the peroxisomal transporter ATP-binding cassette, subfamily D, member 1 gene mutations.
Yuji Uchida, En Kimura, Teruyuki Hirano, Shinsuke Nishi, Yasushi Maeda, Satoshi Yamashita, Keiko Ueno-Shuto, Naofumi Tokutomi, Mika Kitajima, Toshinori Hirai, Makoto Uchino   +10 more
doaj   +1 more source

X-linked adrenoleukodystrophy in a pediatric patient: A case report

Medicina Universitaria, 2021
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene leading to the accumulation of very long-chain fatty acids.
Graciela A. López-Uriarte, Leonor G. Hinojosa-Amaya, Laura G. Peña-Balboa, Efrain de J. Medina-Cruz   +3 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Easily misdiagnosed X-linked adrenoleukodystrophy

Italian Journal of Pediatrics
Background Addison’s disease and X-linked adrenoleukodystrophy (X-ALD) (Addison’s-only) are two diseases that need to be identified. Addison’s disease is easy to diagnose clinically when only skin and mucosal pigmentation symptoms are present. However, X-
Qiu-Hong Wang, Yang-Yang Wang, Jing Wang, Li-Ying Liu, Jing Gao, Guo-Zhen Hao, Chen Chen, Qian Lu, Shuo Dun, Qi Zhang, Li-Ping Zou   +10 more
doaj   +1 more source

Plasma Very‐Long‐Chain Fatty Acids in X‐Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort

Journal of Clinical Laboratory Analysis, EarlyView.
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Sergio Molina Blas, Sergio Pérez Pujalte, Ana Moreno Álvarez, Ana Isabel Álvarez Ríos, Beatriz Muñoz Cabello, Constanza Navarro Moreno, Ana Lucia Gómez Gila, Elena Dios Fuentes, Eva Venegas Moreno, Carmen Delgado Pecellín   +9 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy

Annals of Clinical and Translational Neurology, 2020
Objective To identify a pharmacological compound targeting macrophages, the most affected immune cells in inflammatory X‐linked adrenoleukodystrophy (cerebral X‐ALD) caused by ABCD1 mutations and involved in the success of hematopoietic stem cell ...
Bettina Zierfuss, Isabelle Weinhofer, Jörn‐Sven Kühl, Wolfgang Köhler, Annette Bley, Katharina Zauner, Johannes Binder, Ksenija Martinović, Christian Seiser, Christoph Hertzberg, Stephan Kemp, Gerda Egger, Gerda Leitner, Jan Bauer, Christoph Wiesinger, Markus Kunze, Sonja Forss‐Petter, Johannes Berger   +17 more
doaj   +1 more source