Results 231 to 240 of about 24,692 (277)
Some of the next articles are maybe not open access.
Continuum, 2018
The leukodystrophies, typically considered incurable neurodegenerative disorders, are often diagnosed after irreversible central and peripheral nervous system injury has occurred. Early recognition of these disorders is imperative to enable potential therapeutic interventions. This article provides a summary of the symptoms of and diagnostic evaluation
openaire +2 more sources
The leukodystrophies, typically considered incurable neurodegenerative disorders, are often diagnosed after irreversible central and peripheral nervous system injury has occurred. Early recognition of these disorders is imperative to enable potential therapeutic interventions. This article provides a summary of the symptoms of and diagnostic evaluation
openaire +2 more sources
LEUKOENCEPHALOPATHIES AND LEUKODYSTROPHIES
Continuum, 2010The leukoencephalopathies encompass a heterogeneous group of disorders that involve the brain white matter. The cause may be acquired or inherited; in the latter case, mutations have been found in genes that encode protein components of the myelin membrane or enzymes implicated in the turnover of myelin. In patients with cognitive dysfunction and white
openaire +2 more sources
Globoid cell leukodystrophy (Krabbe disease)
Voprosy dietologii, 2020The article presents a case report of a variant of leukodystrophy: Krabbe disease. The disease was aggravated by concomitant hepatitis, hepatocellular insufficiency grade 3.
I. V. Sadovnikova +2 more
semanticscholar +1 more source
Leukodystrophies are a heterogeneous group of rare genetic neurologic disorders characterized by white matter degeneration resulting from mutations affecting glial cells. This review focuses on the primary subtypes-astroglial, oligodendroglial, and microglial leukodystrophies-offering a detailed description of their neuropathologic features and ...
Hol, Elly M +6 more
openaire +3 more sources
Hol, Elly M +6 more
openaire +3 more sources
Krabbe's Leukodystrophy (Globoid Cell Leukodystrophy)
Archives of Neurology, 1970KRABBE'S leukodystrophy or globoid cell leukodystrophy (GLD) is a familial neurological disorder of early infancy characterized clinically by tonic seizures, generalized convulsions, spastic quadriplegia, cortical blindness or optic atrophy, deafness, pseudobulbar palsy, and a rapidly progressive course.
openaire +1 more source
Endocrinopathies in Leukodystrophy
Current Problems in Pediatric and Adolescent Health Care, 2023Vivian, Szymczuk, Nadia, Merchant
openaire +2 more sources
Introduction to leukodystrophy
Current Problems in Pediatric and Adolescent Health Care, 2022Mi Ran, Shin, Kylie, Mortgart, Amy, May
openaire +2 more sources
Introduction to leukodystrophy
Current Problems in Pediatric and Adolescent Health Care, 2023Mi Ran, Shin +3 more
openaire +2 more sources
Peroxisomal disorders can be classified as single-enzyme deficiencies or peroxisomal biogenesis disorders (characterized by multiple peroxisomal enzyme deficiencies or complete absence of peroxisomes). Most peroxisomal disorders give rise to complex multisystem disorders. Peroxisomal disorders associated with leukodystrophy are discussed in more detail,
openaire +2 more sources
openaire +2 more sources
2017
The term “leukodystrophies” refers to a group of genetic diseases characterized by degeneration of white matter in the central nervous system. Depending on the type of leukodystrophy, the phenotype can range from early infantile-onset, rapid, progressive forms to adult-onset slowly progressive variants. The understanding, definition, and classification
Ulrike Schrifl +2 more
openaire +2 more sources
The term “leukodystrophies” refers to a group of genetic diseases characterized by degeneration of white matter in the central nervous system. Depending on the type of leukodystrophy, the phenotype can range from early infantile-onset, rapid, progressive forms to adult-onset slowly progressive variants. The understanding, definition, and classification
Ulrike Schrifl +2 more
openaire +2 more sources