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Aachen authors

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Aachen papers per year

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24

Papers 4

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course
2020 JIMD Reports article Medicine Lysosomal Storage Disorders Research Open access

Willemijn F. E. Kuper, Claudia van Alfen, Linda van Eck, Robert A de Man, Marjolein H. Willemsen, Koen L.I. van Gassen, +2 more

8

citations
Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders
2024 JIMD Reports article Medicine Lysosomal Storage Disorders Research Open access

Eline C. B. Eskes, Laura van Dussen, Johannes M. F. G. Aerts, Martijn J. C. van der Lienden, Mario M. Maas, Erik M. Akkerman, +3 more

4

citations
Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
2021 JIMD Reports article Medicine Lysosomal Storage Disorders Research Open access

Eline C. B. Eskes, Martijn J. C. van der Lienden, Joris J. T. H. Roelofs, Liffert Vogt, Johannes M. F. G. Aerts, Jan Aten, +1 more

2

citations
Riboflavin transporter deficiency in young adults unmasked by dietary changes
2024 JIMD Reports article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access

Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I. Wolf, +1 more

1

citations

4 results

Most active Aachen authors

Johannes M. F. G. Aerts 29,390 citations overall
2 papers
Monique Losekoot 4,928 citations overall
1 paper
Robert Brunkhorst 1,099 citations overall
1 paper
Martijn J. C. van der Lienden 329 citations overall
1 paper