Metachromatic leukodystrophy associated with choledochal cysts and gallbladder papillomatosis
Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A which is responsible for the desulfation of cerebroside sulfate, a myelin glycolipid. Accumulation of these sulfatides in the macrophages of various tissues c...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2019-01-01
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Series: | Journal of Pediatric Surgery Case Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2213576618302823 |