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Leukodystrophy

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Leukodystrophy" returned 12 free, full-text review articles. First few results:
Gallbladder Papilloma in a Child Unmasking Metachromatic Leukodystrophy: A Case Report With Review of Literature.
Last Updated: Feb 24, 2020

: Metachromatic leukodystrophy (MLD) is a lipid storage disease characterized the accumulation of sulfatides in different viscera including the gallbladder. : A 2-year-old girl had upper right quadrant lesion that was preoperatively thought to be a biliary cystadenoma. Histologically, ...

Biopsy-proven primary angiitis of the central nervous system mimicking leukodystrophy: A case report and review of the literature.
Last Updated: Jul 01, 2019

Primary Angiitis of the Central Nervous System (PACNS) is a rare form of idiopathic CNS vasculitis. Neuroimaging is often abnormal and characterized by multifocal brain lesions, but brain biopsy definitely confirms the diagnosis. We report the rare case of a 45-year-old female presenting ...

Alexander disease: an astrocytopathy that produces a leukodystrophy.
Last Updated: Jan 24, 2019

Alexander Disease (AxD) is a degenerative disorder caused by mutations in the GFAP gene, which encodes the major intermediate filament of astrocytes. As other cells in the CNS do not express GFAP, AxD is a primary astrocyte disease. Astrocytes acquire a large number of pathological ...

Full PubMed Review articles matches at NCBI:
12 Free Review Articles 72 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Leukodystrophy" returned 1 free, full-text editorial articles. First 1 results:
Full PubMed Editorials matches at NCBI:
1 Free Editorials 5 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Leukodystrophy" returned 216 free, full-text research articles. First few results:
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Last Updated: Mar 30, 2020

To describe the genetic variants in the ARSA gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown.

Full PubMed Research articles matches at NCBI:
216 Free Research Articles 821 Research Articles