A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 272-276, 2011.
Artículo
en Inglés
| WPRIM
| ID: wpr-32904
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Encéfalo
/
Espectroscopía de Resonancia Magnética
/
Cerebrósido Sulfatasa
/
Pruebas de Enzimas
/
Leucodistrofia Metacromática
/
Biología Molecular
Idioma:
Inglés
Revista:
Journal of the Korean Child Neurology Society
Año:
2011
Tipo del documento:
Artículo
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