PHOSPHOMANNOMUTASE 2-CONGENITAL DISORDER OF GLYCOSYLATION: A CASE REPORT AND LITERATURE REVIE

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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Bibliographic Details
Main Author:	WMENG Qiutong, ZHANG Tian, RAN Ni, YANG Zhaochuan, FU Peng, SHAN Yanchun
Format:	Article
Language:	zho
Published:	Editorial Office of Journal of Precision Medicine 2023-08-01
Series:	精准医学杂志
Subjects:	congenital disorders of glycosylation\|phosphotransferases (phosphomutases)\|mannose\|mutation\|genetic testing\|retrospective studies
Online Access:	https://jpmed.qdu.edu.cn/fileup/2096-529X/PDF/202304008.pdf

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