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...

Descrición completa

Detalles Bibliográficos

Principais autores:	Cheng Luo, Danxia Peng, Yanyan Li, Shuping Liu, Qiong Wu, Xuan Xu, Jie Wen
Formato:	Artigo
Idioma:	Inglês
Publicado:	Elsevier 2024-12-01
Series:	Molecular Genetics and Metabolism Reports
Assuntos:	Congenital disorders of glycosylation MPI gene Hypoglycemia Mild diarrhea
Acceso en liña:	http://www.sciencedirect.com/science/article/pii/S2214426924001150
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!