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Role of epigenetics and alterations in RNA metabolism in leukodystrophies [PDF]

Wiley Interdisciplinary Reviews RNA
Leukodystrophies are a class of rare heterogeneous disorders which affect the white matter of the brain, ultimately leading to a disruption in brain development and a damaging effect on cognitive, motor and social-communicative development.
Federica Rey, Davide Tonduti, Cristina Cereda   +2 more
exaly   +2 more sources

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Krabbe's Leukodystrophy (Globoid Cell Leukodystrophy)

Archives of Neurology, 1970
KRABBE'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.
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Leukodystrophies

The Neurologist, 2009
The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate ...
Daniel J, Costello, April F, Eichler, Florian S, Eichler   +2 more
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Endocrinopathies in Leukodystrophy

Current Problems in Pediatric and Adolescent Health Care, 2023
Vivian, Szymczuk, Nadia, Merchant
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Introduction to leukodystrophy

Current Problems in Pediatric and Adolescent Health Care, 2022
Mi Ran, Shin, Kylie, Mortgart, Amy, May
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Introduction to leukodystrophy

Current Problems in Pediatric and Adolescent Health Care, 2023
Mi Ran, Shin, Kylie, Mortgart, Amy, May, Sarah, Helen Evans   +3 more
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Peroxisomal leukodystrophy

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,
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Epilepsy in children with leukodystrophies

Journal of Neurology, 2020
Haoran Ji, Yuwu Jiang
exaly  

Hypomyelinating leukodystrophies in adults: Clinical and genetic features

European Journal of Neurology, 2021
Davide Pareyson, Claudia Ciano, Ettore Salsano   +2 more
exaly  

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities

Journal of Child Neurology, 2019
Gustavo Maegawa
exaly