Mucopolysaccharidosis type I - Clinical and genetic characteristics of Romanian patients
Background: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of α-L-iduronidase (IDUA), which leads to the accumulation of partially digested glycosaminoglycans (dermatan sulfate and heparan sulfate) in the lysosomes and induces multisy...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2020-07-01
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| Series: | Romanian Journal of Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/rrlm-2020-0030 |