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Silvia Radenkovic

Laboratory Clinical Geneticist in training

Universitair Medisch Centrum Utrecht

Netherlands

Research Interests

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Professors in Netherlands Professors in Biochemistry Biochemistry professors in Netherlands

Articles (20)

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2026

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2023

Collaborators (15)

Mayank Saraswat

Ruhr-Universität Bochum

GERMANY

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Kyriakie Sarafoglou

Faculty, Professor

University of Minnesota

UNITED STATES

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Ginevra Doglioni

Salk Institute for Biological Studies

UNITED STATES

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Hannah van Malenstein

Associate professor

Universitaire Ziekenhuizen Leuven

BELGIUM

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Akhilesh Pandey

Professor

Mayo Clinic Rochester

UNITED STATES

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Jaroslav Blahos

Institute of Molecular Genetics

CZECH REPUBLIC

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Bijina Balakrishnan

Assistant Professor

University of Utah

UNITED STATES

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Bart Ghesquière

Professor

KU Leuven

BELGIUM

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David Cassiman

KU Leuven

BELGIUM

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Mayank Saraswat

Senior Staff Scientist

Sanford Burnham Prebys Medical Discovery Institute

UNITED STATES

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Tamas Kozicz

Professor

Icahn School of Medicine at Mount Sinai

UNITED STATES

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Andrew Edmondson

University of Pennsylvania

UNITED STATES

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Johannes Swinnen

Professor

KU Leuven

BELGIUM

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Kateřina Večerková

Assistant lecturer

University of Chemistry and Technology

CZECH REPUBLIC

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Nael Nadif Kasri

Full professor

Radboudumc

NETHERLANDS

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Silvia Radenkovic

Research Interests

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Articles (20)

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13

Distinct immunometabolic signatures in circulating immune cells define disease outcome in acute-on-chronic liver failure

Rethinking Newborn Screening: A Case of GALM Deficiency

Multiple Sgip1 splice variants inhibit cannabinoid receptor 1 internalization

Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts

A complement C4–derived glycopeptide is a biomarker for PMM2-CDG

Nucleotide metabolism in cancer cells fuels a UDP-driven macrophage cross-talk, promoting immunosuppression and immunotherapy resistance

Neural and metabolic dysregulation in PMM2-deficient human<i> in</i><i> vitro</i> neural models

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines

Coagulation abnormalities and vascular complications are common in PGM1-CDG

D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)

Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder

SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient

Investigating the effects of artificial sweeteners

Tracer metabolomics reveals the role of aldose reductase in glycosylation

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)

Collaborators (15)

Mayank Saraswat

Kyriakie Sarafoglou

Ginevra Doglioni

Hannah van Malenstein

Akhilesh Pandey

Jaroslav Blahos

Bijina Balakrishnan

Bart Ghesquière

David Cassiman

Mayank Saraswat

Tamas Kozicz

Andrew Edmondson

Johannes Swinnen

Kateřina Večerková

Nael Nadif Kasri

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