Concepedia

S. B. Wortmann

SB

8

Publications

249

Citations

8

H-Index

2005

Active since

Affiliations

Radboud University Medical Center(Current)

Radboud University Nijmegen

Erasmus University Rotterdam

Erasmus MC

S. B. Wortmann is an author at Radboud University Medical Center specializing in medicine, embryology, and morphogenesis.

Top concepts

Publications per year

2005–2015

8

Publications

8

MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction

Kati J. Ahlqvist, Silvia Leoncini, Alessandra Pecorelli et al. · Nature Communications · 2015 · 66 citations · Full text

3-Methylglutaconic aciduria type I redefined

S. B. Wortmann, Barbara Kremer, Alison Graham et al. · Neurology · 2010 · 51 citations

Substrate deprivation therapy in juvenile Sandhoff disease

S. B. Wortmann, Dirk J. Lefeber, Gabriele Dekomien et al. · Journal of Inherited Metabolic Disease · 2009 · 32 citations

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern

Miski Mohamed, Maïlys Guillard, S. B. Wortmann et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 28 citations

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Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

Jessica de Ruijter, L. Broere, Mark Mulder et al. · Journal of Inherited Metabolic Disease · 2013 · 22 citations

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