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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
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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
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Prenatal metachromatic leukodystrophy.
Helvetica paediatrica acta, 1975In a family with a metachromatic leukodystrophy patient, two further pregnancies at risk were monitored by amnion cell culture. In one case, a normal baby was predicted and born. In the other case, a prenatal deficiency of arylsulfatase A was found. The diagnosis of metachromatic leukodystrophy was confirmed biochemically in various organs of the fetus
Wiesmann, U N +6 more
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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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Journal of Neurology, 2000
Leukodystrophies are genetic metabolic diseases which generally occur in early childhood at the time of myelination. Surprisingly, these diseases can also occur during adulthood. Adult forms have various clinical presentations which reflect degenerative diseases of the nervous system. The course may last for decades.
N, Baumann, J C, Turpin
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Leukodystrophies are genetic metabolic diseases which generally occur in early childhood at the time of myelination. Surprisingly, these diseases can also occur during adulthood. Adult forms have various clinical presentations which reflect degenerative diseases of the nervous system. The course may last for decades.
N, Baumann, J C, Turpin
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Perinatal Sudanophilic Leukodystrophy
Archives of Pediatrics & Adolescent Medicine, 1973A full-term infant girl exhibited a rapidly progressing neurologic disease characterized clinically by respiratory distress, flaccidity, myoclonic seizures, and a periodic electroencephalographic pattern. Death occurred at 18 days of age. Sudanophilic leukodystrophy was found at postmortem examination.
H B, Sarnat, L S, Adelman
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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
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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
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Hol, Elly M +6 more
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Leukodystrophies: Indian scenario
The Indian Journal of Pediatrics, 2005The leukodystrophies are familial disorders with onset usually in infancy or childhood. The clinical features consist of motor dysfunction with varying degree of cognitive decline. Magnetic Resonance Imaging (MRI) has helped to identify and characterize these disorders.
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Die Leukodystrophie Typ Krabbe (Globoidzell-Leukodystrophie)
1971Diese Form der Leukodystrophie ist durch grose, kugelformige Riesenzellen mit randstandigen Kernen, die Globoidzellen, charakterisiert. Sie liegen meist in Gefasnahe. Auserdem ist typisch, das trotz hochgradiger Entmarkung nur wenige Fettkornchenzellen nachweisbar sind. Auch diese finden sich meist in unmittelbarer Gefasnahe.
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Introduction to leukodystrophy
Current Problems in Pediatric and Adolescent Health Care, 2022Mi Ran, Shin, Kylie, Mortgart, Amy, May
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