Eline B. Eskes
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 9 publications
Exploring Exhaled Breath Analysis in Adults With Chronic Visceral Acid Sphingomyelinase Deficiency to Identify Potential Biomarkers of Pulmonary Involvement.
Journal: Journal of inherited metabolic disease
Published: December 21, 2024
The value of MR spectroscopy and MR elastography in assessing hepatic involvement of chronic visceral acid sphingomyelinase deficiency in adults.
Journal: Molecular genetics and metabolism
Published: December 13, 2024
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.
Journal: Journal of inherited metabolic disease
Published: May 10, 2024
Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.
Journal: JIMD reports
Published: February 07, 2024
Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.
Journal: Orphanet journal of rare diseases
Published: September 05, 2023
Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency.
Journal: Molecular genetics and metabolism
Published: March 27, 2023
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
Journal: Orphanet journal of rare diseases
Published: June 09, 2022
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Journal: Molecular genetics and metabolism
Published: December 12, 2019
Showing 1-9 of 9
Last Updated: 09/26/2026