Results 31 to 40 of about 3,970 (184)

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

Frontiers in Pediatrics, 2021
Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common.
Majid Alfadhel, Majid Alfadhel, Majid Alfadhel, Mohammed Almuqbil, Mohammed Almuqbil, Fuad Al Mutairi, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Waleed Altuwaijri, Ahmed Al-Rumayyan, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Naif A. M. Almontashiri, Amal Alhashem, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Muhammad Talal Alrifai, Ahmed Alfares, Ahmed Alfares, Brahim Tabarki   +42 more
doaj   +1 more source

Infantile Metachromatic Leukodystrophy

, 1970
A profound deficiency of arylsulfatase A activity (ARA) is detectable in skin fibroblasts developed from patients with infantile metachromatic leukodystrophy (about 3 to 4 per cent of normal). Fibroblasts were cultivated from skin biopsies of parents and
Howell, R. Rodney, Kaback, Michael M, Michael M. Kaback, R. Rodney Howell   +3 more
core   +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

The Underestimated Role of Environmental Factors in the Prevention of Invasive Fungal Disease: Experience From a European Childhood Cancer Centre

Mycoses, Volume 69, Issue 7, July 2026.
ABSTRACT Background Immunocompromised children with hematologic malignancies or undergoing allogeneic haematopoietic stem cell transplantation (HSCT) are at high risk for invasive fungal diseases (IFDs). Reported incidence varies considerably due to heterogeneous diagnostic criteria, antifungal strategies and environmental conditions.
Stefano Malvestiti, Felicia Andresen, Markus Hufnagel, Carsten Speckmann, Brigitte Strahm, Tobias Feuchtinger, Alexander Puzik   +6 more
wiley   +1 more source

Metachromatic leukodystrophy: Overveiw

, 2014
How to Cite This Article: Zamani GR. Metachromatic leukodystrophy: Overveiw. Iran J Child Neurol Autumn 2014;8:4 (suppl.1):5-6.
ZAMANI, Gholamreza
core   +1 more source

Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder

Neurobiology of Disease, 2004
Metachromatic leukodystrophy (MLD) is a lysosomal lipid storage disease caused by arylsulfatase A deficiency. In MLD patients the sphingolipid sulfatide increasingly accumulates leading to progressive demyelination.
K Saravanan, N Schaeren-Wiemers, D Klein, R Sandhoff, A Schwarz, A Yaghootfam, V Gieselmann, S Franken   +7 more
doaj   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1236-1248, June 2026.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1206-1221, June 2026.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Metachromatic leukodystrophy: A case report

Bangabandhu Sheikh Mujib Medical University Journal, 2016
Metachromatic leuk:odystrophy (MLD) is a rare neurometabolic disease caused by the deficiency of the enzyme arylsulfa­tase A .Deficiency of this enzyme results in intralysosomal storage ofsphingolipid , cerebroside 3-sulfates (sulfatides), which are ...
Gopen Kumar Kundu, Shaheen Akhter, M. Mizanur Rahman   +2 more
doaj   +1 more source

Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Frontiers in Neurology, 2021
Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive
Lulu Xu, Meixiang Zhong, Yajuan Wang, Zhihong Wang, Jie Song, Jing Zhao, Hongyun Yu, Zhencui Yang, Wenjing Yan, Xueping Zheng   +9 more
doaj   +1 more source