Topics › Health Sciences › Medicine › Physiology

Lysosomal Storage Disorders Research Sign in to save

Search and filter its papers →

Aachen papers (primary topic)

106

Further papers (secondary topic)

1.17k

Citations

112

Aachen authors

Patent citations

Papers per year

Papers 88

Open in paper search →

Ocular Manifestations of Neuronal Ceroid Lipofuscinoses
2021 Seminars in Ophthalmology article Medicine Lysosomal Storage Disorders Research

Rohan Bir Singh, Prakash Gupta, Akash Kartik, Naba Farooqui, Sachi Singhal, Sukhman Shergill, +2 more

6

citations
Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease
2024 Brain Communications article Medicine Lysosomal Storage Disorders Research Open access

Chloé Najac, Nadine A. M. E. van der Beek, Vincent O. Boer, Pieter F van Doorn, Ans T. van der Ploeg, Itamar Ronen, +2 more

5

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
a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy
2023 PLoS ONE article Medicine Lysosomal Storage Disorders Research Open access

Marina Moraitou, Georgios Sotiroudis, Nikolaos Papagiannakis, Maria Ferraz, Aristotelis Xenakis, Johannes M. F. G. Aerts, +2 more

4

citations
Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants
2022 Parkinsonism & Related Disorders article Medicine Lysosomal Storage Disorders Research

Tatiana Usnich, Maria Olmedillas, Nathalie Schell, Jefri J Paul, Filipa Curado, Snezana Skobalj, +15 more

3

citations
Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage
2023 Human Gene Therapy article Medicine Lysosomal Storage Disorders Research Open access

Fabio Catalano, Eva C. Vlaar, Zina Dammou, Drosos Katsavelis, Tessa F. Huizer, Giacomo Zundo, +8 more

3

citations
Development of selective nanomolar cyclic peptide ligands as GBA1 enzyme stabilisers
2025 RSC Chemical Biology article Medicine Lysosomal Storage Disorders Research Open access

Rebecca E. Katzy, Renier H. P. van Neer, Maria J. Ferraz, Kim Nicolai, Toby Passioura, Hiroaki Suga, +2 more

3

citations
Multimodal dynamic retinal vessel analysis offers new insights in microvascular defects in Fabry’s disease
2025 Scientific Reports article Medicine Lysosomal Storage Disorders Research Open access

Abdelrahman Assaf, Konstantin E. Kotliar, Arno Schmidt‐Trucksäss, Ines M Lanzl

2

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
Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis
2026 Orphanet Journal of Rare Diseases article Medicine Lysosomal Storage Disorders Research Open access

Yanjun Liu, Xi Luo, Samira Ranjbar, Johannes M. F. G. Aerts, Martijn van der Lienden, Andrea Dardis, +1 more

2

citations
C -Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease
2025 Journal of Medicinal Chemistry article Medicine Lysosomal Storage Disorders Research Open access

Anaïs Vieira Da Cruz, Valentine Perraudin, Nadia Minopoli, Roberta Iacono, V. Roig-Zamboni, Andrea Bossio, +13 more

2

citations
Intronic Haplotypes in GBA Modify Age at Diagnosis of Parkinson's: Replication in a Subgroup
2021 Movement Disorders article Medicine Lysosomal Storage Disorders Research Open access

Justin Martin O'Sullivan, Jonas M. den Heijer, Geert Jan Groeneveld, Antony A. Cooper

2

citations
6-O-alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols
2024 Journal of Lipid Research article Medicine Lysosomal Storage Disorders Research Open access

Stef Bannink, Kateryna O. Bila, Joosje van Weperen, Nina A. M. Ligthart, Maria J. Ferraz, Rolf G. Boot, +5 more

2

citations
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation
2026 npj Genomic Medicine article Medicine Lysosomal Storage Disorders Research Open access

Timon Wallraven, Claudia Regenbogen, Roman Günthner, Andrea Ribeiro, Javier Carbajo-Lozoya, Nora Hannane, +10 more

1

citations
Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
2020 Genetics in Medicine erratum Medicine Lysosomal Storage Disorders Research Open access

Daniel Georges Bichet, Johannes M. F. G. Aerts, Christiane Auray‐Blais, Hiroki Maruyama, Atul B Mehta, Nina Skuban, +2 more

1

citations
Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance
2026 Journal of Neurology review Medicine Lysosomal Storage Disorders Research Open access

Jan J. A. van den Dorpel, Martha Caterina Faraguna, Robert M. Verdijk, Nadine A. M. E. van der Beek, W.W.M. Pim Pijnappel, Ans T. van der Ploeg, +1 more

1

citations
Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies
2026 Angewandte Chemie International Edition article Medicine Lysosomal Storage Disorders Research Open access

Nicky de Koster, Òscar Vidal-Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, +8 more

1

citations
Gaucher Disease Protects Against Tuberculosis
2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Lysosomal Storage Disorders Research Open access

Jingwen Fan, Victoria L. Hale, Lindsey T. Lelieveld, Laura J. Whitworth, Elisabeth M. Busch‐Nentwich, Mark A. Troll, +5 more

1

citations
Clinical characterization and therapy discussion of the p.Asp313Tyr variant in GLA
2021 Molecular Genetics and Metabolism article Medicine Lysosomal Storage Disorders Research

Christina Dumke, Diana Zengeler, Lejla Mulahasanovic, Jörg Bernhard Schulz, Burkhard Gess, Maike Franziska Dohrn

0

citations
Recurrent abdominal pain in hereditary sensory autonomic neuropathy type II (HSAN-II)
2021 Revue Neurologique article Medicine Lysosomal Storage Disorders Research

Hussam R Alkaissi, Essam Al‐Sibahee, H. Baher, Katja Eggermann, A. Al-Abayechi, Ingo Kurth

0

citations

Most active Aachen authors

Johannes M. F. G. Aerts 29,390 citations overall
53 papers
Maria J. Ferraz 1,620 citations overall
18 papers
Herman S. Overkleeft 29,012 citations overall
15 papers
Marta Artola 1,946 citations overall
15 papers
Rolf G. Boot 11,486 citations overall
14 papers
Martijn van der Lienden 2 citations overall
10 papers
Lindsey T. Lelieveld 381 citations overall
7 papers
Martijn J. C. van der Lienden 329 citations overall
7 papers
Geert Jan Groeneveld 5,330 citations overall
6 papers
Jonas M. den Heijer 363 citations overall
6 papers
Qin Su 3,286 citations overall
5 papers
C.J. Kuo 879 citations overall
5 papers
Marco van Eijk 5,194 citations overall
4 papers
Daphne E.C. Boer 533 citations overall
4 papers
Rob F. Lammers 87 citations overall
4 papers

Lysosomal Storage Disorders Research ▲ Sign in to save

Papers per year

Papers 88

Most active Aachen authors

Lysosomal Storage Disorders Research Sign in to save