Ben M. Poorthuis
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 10 publications
Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry.
Journal: Journal of lipid research
Published: January 30, 2015
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
Journal: Journal of medical genetics
Published: January 18, 2015
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.
Journal: Journal of medical genetics
Published: August 08, 2013
Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry.
Journal: Clinical chemistry
Published: December 15, 2012
Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.
Journal: JIMD reports
Published: September 03, 2012
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Journal: Molecular genetics and metabolism
Published: April 29, 2012
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
Journal: PloS one
Published: April 24, 2012
Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.
Journal: Clinical genetics
Published: January 17, 2012
Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography-mass spectrometry.
Journal: Analytical and bioanalytical chemistry
Published: January 13, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026