CLINICAL AND GENETIC CHARACTERISTICS OF MUCOLIPIDOSIS II AND IIIA TYPES IN CHILDREN
The article is devoted to a rare pathology from a group of accumulation diseases with an autosomal recessive type of inheritance – mucolipidosis II and IIIA types. The disease is characterized by a greater phenotypic similarity to mucopolysaccharidosis.Objective: analysis of genophenotypic parameter...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2017-06-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/502 |