Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia

MPI-CDG should be considered in infancy with unexplained hypoglycemia and recurrent digestive and endocrine system involvement. Also, if evident symptoms are present, a gene examination should be performed, as this could speed up the diagnosis assuring timely treatment.

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Publication Details

Journal
Molecular Genetics and Metabolism Reports
Published
2024-11-20
DOI
https://doi.org/10.1016/j.ymgmr.2024.101162
Primary Topic
Erythrocyte Function and Pathophysiology
Type
article
Field-Weighted Citation Impact
0.00
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article

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia

Shaoyu Liu, Cheng Luo, Danxia Peng, Yanyan Li et al.
Molecular Genetics and Metabolism Reports
Erythrocyte Function and Pathophysiology
article

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia

Shaoyu Liu, Cheng Luo, Danxia Peng, Yanyan Li, Qiong Wu, Xuan Xu, Jie Wen
article en

Abstract

MPI-CDG should be considered in infancy with unexplained hypoglycemia and recurrent digestive and endocrine system involvement. Also, if evident symptoms are present, a gene examination should be performed, as this could speed up the diagnosis assuring timely treatment.

Molecular Genetics and Metabolism ReportsVol. 41
Hunan Normal University (CN), Hunan Provincial People's Hospital (CN)
Zero hunger
Openalex Percentile: Top 70%
Erythrocyte Function and Pathophysiology
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