PHOSPHOMANNOMUTASE 2-CONGENITAL DISORDER OF GLYCOSYLATION: A CASE REPORT AND LITERATURE REVIE
Objective To investigate the clinical and genetic features of patients with phosphomannomutase 2 (PMM2)-congenital disorder of glycosylation (CDG), and to provide a basis for the early diagnosis of PMM2-CDG. Methods A retrospective analysis was performed for the clinical data of a child with PMM2-CD...
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Format: | Article |
Language: | zho |
Published: |
Editorial Office of Journal of Precision Medicine
2023-08-01
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Series: | 精准医学杂志 |
Subjects: | |
Online Access: | https://jpmed.qdu.edu.cn/fileup/2096-529X/PDF/202304008.pdf |