A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 272-276, 2011.
Article
em En
| WPRIM
| ID: wpr-32904
Biblioteca responsável:
WPRO
ABSTRACT
Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A resulting in a deficiency of sulfatide degradation and the target gene is ARSA gene. We report a case of the late infantile form of MLD that was confirmed by means of enzyme assay and gene analysis with typical brain MRI and MR spectroscopy finding.
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Índice:
WPRIM
Assunto principal:
Encéfalo
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Espectroscopia de Ressonância Magnética
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Cerebrosídeo Sulfatase
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Ensaios Enzimáticos
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Leucodistrofia Metacromática
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Biologia Molecular
Idioma:
En
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2011
Tipo de documento:
Article