Marianne Westerveld-Hoogeveen

Rotterdam, ZH 3015CN, Netherlands

Last Updated: 09/26/2026

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Found 47 publications

Response to: Correspondence on 'Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements' by Barzel et al.

Response to: Correspondence on 'Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements' by Barzel et al.

Journal: European journal of hospital pharmacy : science and practice

Published: December 31, 2025

Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Correction: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

Published: December 15, 2025

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?

Journal: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy

Published: November 09, 2025

Antibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insights.

Antibody formation and efficacy of enzyme replacement therapy in adults with Pompe disease: Unlocking long-term insights.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 15, 2025

Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements.

Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements.

Journal: European journal of hospital pharmacy : science and practice

Published: March 08, 2025

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Journal: HGG advances

Published: February 27, 2025

Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage.

Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage.

Journal: Human gene therapy

Published: December 12, 2023

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II.

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II.

Journal: Molecular therapy. Methods & clinical development

Published: June 28, 2023

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.

Journal: Human mutation

Published: October 11, 2022

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: July 08, 2022

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.

Journal: Human mutation

Published: December 09, 2021

Effect of Anti-Iduronate 2-Sulfatase Antibodies in Patients with Mucopolysaccharidosis Type II Treated with Enzyme Replacement Therapy.

Effect of Anti-Iduronate 2-Sulfatase Antibodies in Patients with Mucopolysaccharidosis Type II Treated with Enzyme Replacement Therapy.

Journal: The Journal of pediatrics

Published: December 03, 2021

Showing 1-12 of 47

Last Updated: 09/26/2026