Sanfilippo Syndrome: The Tale of a Challenging Diagnosis
Abstract Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. The four types of MPS III are recognized in accordance with the deficie...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2020-10-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100503&tlng=en |