Ben J. H. M. Poorthuis

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Publications

Citations

5.4K

H-Index

Active since

1976

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

Leiden University Medical Center

Leiden University

University of Amsterdam

Radboud University Nijmegen

Ben J. H. M. Poorthuis is an author at Amsterdam UMC Location University of Amsterdam specializing in life sciences, biochemistry, and medical genetics.

Publications per year

1976–2015

Publications

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

Johannes M. F. G. Aerts, J.E.M. Groener, Sijmen Kuiper et al. · Proceedings of the National Academy of Sciences · 2008 · 727 citations · Full text

Life Sciences, Biochemistry, Pathology +14

The frequency of lysosomal storage diseases in The Netherlands

Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer et al. · Human Genetics · 1999 · 725 citations

Life Sciences, Genetics, Pathology +9

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Brage Storstein Andresen, S. E. Olpin, Ben J. H. M. Poorthuis et al. · The American Journal of Human Genetics · 1999 · 302 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

Saskia M. Rombach, Natashe Lemos Dekker, Machtelt G. Bouwman et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2010 · 230 citations · Full text

Medicine, Hematology, Pathology +3

Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses.

J G de Jong, Ron A. Wevers, Coby M. Laarakkers et al. · Clinical Chemistry · 1989 · 223 citations

Medicine, Diagnostic Sciences, Biopharmaceutics +12

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