Edwin H. Jacobs
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 21 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.
Journal: European journal of hospital pharmacy : science and practice
Published: December 31, 2025
T1-weighted/T2-weighted ratio reflects microstructural changes in Alzheimer's disease.
Journal: Alzheimer's research & therapy
Published: November 22, 2025
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.
Journal: European journal of hospital pharmacy : science and practice
Published: March 08, 2025
Biallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype.
Journal: American journal of medical genetics. Part A
Published: October 07, 2024
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Journal: Molecular genetics and metabolism reports
Published: June 07, 2023
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Journal: Acta neuropathologica
Published: March 24, 2023
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Journal: Journal of inherited metabolic disease
Published: November 16, 2022
Distinct features in adult polyglucosan body disease: a case series.
Journal: Neuromuscular disorders : NMD
Published: September 02, 2022
The impact of the COVID-19 pandemic on healthcare access and utilisation in South Sudan: a cross-sectional mixed methods study.
Journal: BMC health services research
Published: June 14, 2022
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
Journal: Orphanet journal of rare diseases
Published: November 01, 2021
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy.
Journal: Brain : a journal of neurology
Published: May 11, 2021
Last Updated: 09/26/2026