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<a href="http://doi.org/10.1111/j.1651-2227.1995.tb13616.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1651-2227.1995.tb13616.x</a>
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Title
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Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.
Publisher
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Acta Paediatrica
Date
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1995
Subject
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Humans; Male; Adult; Follow-Up Studies; Longitudinal Studies; Sweden; Tomography; Age of Onset; X-Ray Computed; Leukodystrophy; Vision Disorders/etiology; Epilepsy/etiology; Galactosylceramidase/blood; Globoid Cell/complications/enzymology/radiography; Musculoskeletal Equilibrium
Creator
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Arvidsson J; Hagberg B; Mansson JE; Svennerholm L
Description
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We describe a male patient with late onset globoid cell leukodystrophy (GLD) (Krabbe's disease) still alive at 24 years of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal and extrapyramidal motor disability with spasticity, dystonia, ataxia and peripheral neuropathy. Visual dysfunction began at 4 years of age, limping and balance problems at 8 years and epilepsy at 14 years of age. Neuroimaging at 15 years of age revealed white matter lesions, and nerve conduction velocity examinations showed a slowly developing polyneuropathy. Galactosylceramidase activity was reduced in leukocytes to 0.07 mu kat/kg protein compared with 0.02 (SD 0.01) mu kat/kg protein in infantile GLD.
1995
Identifier
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<a href="http://doi.org/10.1111/j.1651-2227.1995.tb13616.x" target="_blank" rel="noreferrer">10.1111/j.1651-2227.1995.tb13616.x</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
1995
Acta Paediatrica
Adult
Age of Onset
Arvidsson J
Backlog
Epilepsy/etiology
Follow-up Studies
Galactosylceramidase/blood
Globoid Cell/complications/enzymology/radiography
Hagberg B
Humans
Journal Article
Leukodystrophy
Longitudinal Studies
Male
Mansson JE
Musculoskeletal Equilibrium
Svennerholm L
Sweden
Tomography
Vision Disorders/etiology
X-Ray Computed