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Last Updated: 10/31/2025
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Found 35 publications
Clinical characteristics and D-mannose treatment outcomes in 5 patients with MPI-CDG
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: September 17, 2025
Diagnostic and Therapeutic Approaches in Congenital Disorders of Glycosylation.
Journal: Handbook of experimental pharmacology
Published: March 22, 2025
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.
Journal: Journal of inherited metabolic disease
Published: October 02, 2024
Mannose Phosphate Isomerase Deficiency-Congenital Disorder of Glycosylation (MPI-CDG) Type 1b: Familial Case of Thrombophilia and Liver Disorder.
Journal: Clinical chemistry
Published: August 21, 2024
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.
Journal: Molecular genetics and metabolism reports
Published: July 04, 2024
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: October 01, 2023
Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.
Journal: Frontiers in pediatrics
Published: January 24, 2023
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: December 25, 2022
Case report: The art of anesthesiology-Approaching a minor procedure in a child with MPI-CDG.
Journal: Frontiers in pharmacology
Published: September 06, 2022
Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature.
Journal: Therapeutic advances in rare disease
Published: December 20, 2021
Variation of the serum N-glycosylation during the pregnancy of a MPI-CDG patient.
Journal: JIMD reports
Published: May 06, 2021
Congenital disorders of glycosylation in children - Histopathological and ultrastructural changes in the liver.
Journal: Pediatrics and neonatology
Published: September 03, 2020
Last Updated: 10/31/2025