Results 221 to 230 of about 21,243 (259)
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study. [PDF]
Mol Genet Metab RepFathi M +6 more
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Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]
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Continuum, 2022
This article reviews the most common leukodystrophies and is focused on diagnosis, clinical features, and emerging therapeutic options.In the past decade, the recognition of leukodystrophies has exponentially increased, and now this class includes more than 30 distinct disorders. Classically recognized as progressive and fatal disorders affecting young
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This article reviews the most common leukodystrophies and is focused on diagnosis, clinical features, and emerging therapeutic options.In the past decade, the recognition of leukodystrophies has exponentially increased, and now this class includes more than 30 distinct disorders. Classically recognized as progressive and fatal disorders affecting young
openaire +2 more sources
Neuropediatrics, 2006
The leukodystrophies comprise an ever-expanding group of rare central nervous system disorders with defined clinical, pathological, and genetic characteristics. The broader term, leukoencephalopathy, is applied to all brain white matter diseases, whether their molecular cause is known.
Gilles, Lyon +2 more
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The leukodystrophies comprise an ever-expanding group of rare central nervous system disorders with defined clinical, pathological, and genetic characteristics. The broader term, leukoencephalopathy, is applied to all brain white matter diseases, whether their molecular cause is known.
Gilles, Lyon +2 more
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2012
Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and ...
Seth J, Perlman, Soe, Mar
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Leukodystrophies comprise a broad group of progressive, inherited disorders affecting mainly myelin. They often present after a variable period of normalcy with a variety of neurologic problems. Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and ...
Seth J, Perlman, Soe, Mar
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Nature Reviews Neurology, 2018
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood.
Wolfgang, Köhler +2 more
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The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood.
Wolfgang, Köhler +2 more
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Seminars in Neurology, 2016
Leukodystrophies are heritable disorders primarily affecting the white matter of the central nervous system. They are clinically characterized by spasticity, optic atrophy, and ataxia. These are a heterogeneous group of disorders, including hypomyelinating disorders and demyelinating disorders due to abnormal accumulations.
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Leukodystrophies are heritable disorders primarily affecting the white matter of the central nervous system. They are clinically characterized by spasticity, optic atrophy, and ataxia. These are a heterogeneous group of disorders, including hypomyelinating disorders and demyelinating disorders due to abnormal accumulations.
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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
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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
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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.
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