A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 272-276, 2011.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Brain
/
Magnetic Resonance Spectroscopy
/
Cerebroside-Sulfatase
/
Enzyme Assays
/
Leukodystrophy, Metachromatic
/
Molecular Biology
Language:
English
Journal:
Journal of the Korean Child Neurology Society
Year:
2011
Type:
Article
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