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

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

Background: Mannose phosphate isomerase deficiency-congenital glycosylation disorders (MPI-CDG) is a rare autosomal recessive disorder caused by pathogenic variants in the MPI gene and characterized by digestive, hepatic, and endocrine-related symptoms. Herein, we reported a case of a 4-month-old ba...

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Detaylı Bibliyografya
Asıl Yazarlar: Cheng Luo, Danxia Peng, Yanyan Li, Shuping Liu, Qiong Wu, Xuan Xu, Jie Wen
Materyal Türü: Makale
Dil:English
Baskı/Yayın Bilgisi: Elsevier 2024-12-01
Seri Bilgileri:Molecular Genetics and Metabolism Reports
Konular:
Congenital disorders of glycosylation
MPI gene
Hypoglycemia
Mild diarrhea
Online Erişim:http://www.sciencedirect.com/science/article/pii/S2214426924001150

Internet

http://www.sciencedirect.com/science/article/pii/S2214426924001150

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