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2025
Mark Ontology-based integration and querying of heterogeneous rare disease data sources — POLVAS perspective
Palacz, Wojciech ; Lichołai, Sabina ; Musiał, Jacek ; Wawrzycka-Adamczyk, Katarzyna ; Ślusarczyk, Grażyna ; Strug, Barbara ; Yaman, Beyza ^LU ; Tesi, Michelangelo ^LU ; Gisslander, Karl ^LU and O'Sullivan, Declan , et al. (2025) In Computers in Biology and Medicine 185.
- Contribution to journal › Article
Mark Leveraging genome engineering and stem cells to study rare pediatric CNS disorders
Zetterdahl, Oskar G. ^LU (2025) In Lund University, Faculty of Medicine Doctoral Dissertation Series
- Thesis › Doctoral thesis (compilation)
2024
Mark Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
Schoenmakers, Daphne H. ; Mochel, Fanny ; Adang, Laura A. ; Boelens, Jaap Jan ; Calbi, Valeria ; Eklund, Erik A. ^LU ; Grønborg, Sabine W. ; Fumagalli, Francesca ; Groeschel, Samuel and Lindemans, Caroline , et al. (2024) In Orphanet Journal of Rare Diseases 19(1).
- Contribution to journal › Article
Mark Optimizing rare disorder trials: a phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease
Pizzamiglio, Chiara ; J. Stefanetti, Renae ; McFarland, Robert ; Thomas, Naomi ; Ransley, George ; Hugerth, Matilda ; Grönberg, Alvar ; Simon Serrano, Sonia ^LU ; Elmer, Eskil ^LU and J. Hanna, Michael , et al. (2024) In Brain 148(1). p.39-46
- Contribution to journal › Article
2023
Mark A Quality Assessment of the ARM-Net Registry Design and Data Collection
Hageman, Isabel C. ; van der Steeg, Hendrik J.J. ; Jenetzky, Ekkehart ; Trajanovska, Misel ; King, Sebastian K. ; de Blaauw, Ivo and van Rooij, Iris A.L.M. (2023) In Journal of Pediatric Surgery 58(10). p.1921-1928
- Contribution to journal › Article
2020
Mark Outpatient specialist clinics for pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension in the Nordic countries
Kjellström, Barbro ^LU ; Ryftenius, Henrik ; Landenfelt-Gestre, Lise Lotte and Ivarsson, Bodil ^LU (2020) In Pulmonary Circulation 10(4).
- Contribution to journal › Article
Mark Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
Johnstone, Devon L. ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica ; Kernohan, Kristin D. ; St-Denis, Anik ; Baratang, Nissan V. ; Hartley, Taila ; Geraghty, Michael T. ; Richer, Julie and Majewski, Jacek , et al. (2020) In Journal of Inherited Metabolic Disease 43(6). p.1321-1332
- Contribution to journal › Article
2018
Mark A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers : from bedside to home site monitoring
Hoogeveen, Irene J. ; Peeks, Fabian ; de Boer, Foekje ; Lubout, Charlotte M.A. ; de Koning, Tom J. ^LU ; te Boekhorst, Sebastiaan ; Zandvoort, Robert Jan ; Burghard, Rob ; van Spronsen, Francjan J. and Derks, Terry G.J. (2018) In Journal of Inherited Metabolic Disease 41(6). p.929-936
- Contribution to journal › Article
2017
Mark Transposition and implementation of EU rare disease policy in Eastern Europe
Pejcic, Ana V ; Iskrov, Georgi ; Raycheva, Ralitsa ; Stefanov, Rumen and Jakovljevic, Mihajlo Michael (2017) In Expert Review of Pharmacoeconomics & Outcomes Research 17(6). p.557-566
- Contribution to journal › Scientific review
2015
Mark What is this condition and how could it be treated?
Buchwald, Pamela ^LU ; Keller, Eve and Wakeman, Christopher (2015) In The New Zealand medical journal 128(1420). p.69-69
- Contribution to journal › Article

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