Results 71 to 80 of about 7,234,150 (180)
ABCD1 Gene Mutations in Chinese Patients with ALD
Pediatric Neurology Briefs, 2005 Thirty-two different ABCD1 mutations were identified by direct sequencing of polymerase chain reaction products in 34 unrelated Chinese X-linked adrenoleukodystrophy (ALD) patients examined at Peking University First Hospital, Beijing, PRC.
J Gordon Millichap
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Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.1. Microglial functions arise from dynamic, context‐dependent programs rather than fixed M1/M2 phenotypes. 2. Inflammatory, interferon‐responsive, phagocytic/lipid‐metabolic and repair‐associated programs coexist across disease stages and brain regions. 3.
Jie Chen +6 more
wiley +1 more source
Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female
Case Reports in Neurological Medicine, 2013 Adrenoleukodystrophy (ALD) is a rare X-linked inherited leukodystrophy with a reduced capacity for degradation of very long chain fatty acids (VLCFAs). The intracellular accumulation of VLCFA leads to demyelination in the central nervous system (CNS) and
Gyda Hlin Skuladottir Jack +4 more
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JIMD Reports, Volume 67, Issue 5, September 2026.ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl +2 more
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A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy
Case Reports in Genetics, 2019 Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from ...
M. C. J. Dekker +6 more
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, 2015 Christoph Wiesinger,1 Florian S Eichler,2 Johannes Berger1 1Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria; 2Department for Neurology, Massachusetts General Hospital, Harvard ...
Eichler FS, Berger J, Wiesinger C
core
Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.
Journal of Lipid Research, 1988 In recent years a growing number of inherited diseases have been recognized to originate from an impairment in one or more peroxisomal functions. Since it is well established that the first two steps in the biosynthesis of plasmalogens proceed in ...
G Schrakamp +5 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman +18 more
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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 +13 more
wiley +1 more source