GM2 gangliosidoses: evaluation of clinical, biochemical and genetic findings of patients with three novel mutations
Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features of children with GM2 gangliosidoses. Materials and Methods: The file records of 14 patients diagnosed with GM2 gangliosidoses in our clinic were retrospectively reviewe...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Cukurova University
2021-09-01
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| Series: | Cukurova Medical Journal |
| Subjects: | |
| Online Access: | https://dergipark.org.tr/tr/download/article-file/1798286 |