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Therapeutic Advances in Rare Disease
|
May 14, 2023
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series
Silvia Radenkovic, Christin Johnsen, Andreas Schulze, et al.
International Journal of Neonatal Screening
|
April 23, 2025
Rethinking Newborn Screening: A Case of GALM Deficiency
Eva M M Hoytema van Konijnenburg, Silvia Radenkovic, Klaas Koop, et al.
Cells
|
May 13, 2025
Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in <i>PGM1</i> and <i>NDUFA13</i>
Silvia Radenkovic, Isabelle Adant, Matthew J Bird, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDG
Ester Perales-Clemente, Kristen Liedtke, April Studinski, et al.
Cell Reports
|
November 19, 2024
O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder
Courtney Matheny-Rabun, Sneha S Mokashi, Silvia Radenkovic, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
January 29, 2023
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)
Bijina Balakrishnan, Ruqaiah Altassan, Rohit Budhraja, et al.
Molecular Genetics and Metabolism
|
May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines
Rameen Shah, Erik A Eklund, Silvia Radenkovic, et al.
Molecular Genetics and Metabolism
|
May 12, 2024
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)
Rodrigo Tzovenos Starosta, Angela J Lee, Elizabeth R Toolan, et al.
Cell Reports
|
March 2, 2024
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, et al.
Biorxiv : the Preprint Server for Biology
|
July 9, 2025
PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model
Silvia Radenkovic, Graeme Preston, Rohit Budhraja, et al.
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Search research articles
Search
Showing results (11-20 of 35) with videos related to
Sort By:
Page
of 4
Therapeutic Advances in Rare Disease
|
May 14, 2023
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series
Silvia Radenkovic, Christin Johnsen, Andreas Schulze, et al.
International Journal of Neonatal Screening
|
April 23, 2025
Rethinking Newborn Screening: A Case of GALM Deficiency
Eva M M Hoytema van Konijnenburg, Silvia Radenkovic, Klaas Koop, et al.
Cells
|
May 13, 2025
Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in <i>PGM1</i> and <i>NDUFA13</i>
Silvia Radenkovic, Isabelle Adant, Matthew J Bird, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDG
Ester Perales-Clemente, Kristen Liedtke, April Studinski, et al.
Cell Reports
|
November 19, 2024
O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder
Courtney Matheny-Rabun, Sneha S Mokashi, Silvia Radenkovic, et al.
Translational Research : the Journal of Laboratory and Clinical Medicine
|
January 29, 2023
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)
Bijina Balakrishnan, Ruqaiah Altassan, Rohit Budhraja, et al.
Molecular Genetics and Metabolism
|
May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines
Rameen Shah, Erik A Eklund, Silvia Radenkovic, et al.
Molecular Genetics and Metabolism
|
May 12, 2024
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)
Rodrigo Tzovenos Starosta, Angela J Lee, Elizabeth R Toolan, et al.
Cell Reports
|
March 2, 2024
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, et al.
Biorxiv : the Preprint Server for Biology
|
July 9, 2025
PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model
Silvia Radenkovic, Graeme Preston, Rohit Budhraja, et al.
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of 4