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2025
Mark The Genotypic and Phenotypic Spectrum of GOSR2 Mutations : Clinical and Pathophysiological Insights
Polet, Sjoukje S. ; Siegal, Elisabeth Z. ; Fuchs, Sabine A. ; Tijssen, Marina A.J. and de Koning, Tom J. ^LU (2025) In Journal of Inherited Metabolic Disease 48(6). p.1-13
- Contribution to journal › Scientific review
Mark Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
Hulshof, Ellen M. ; Lantinga, Hugo P. ; Alkemade, Gonnie ; Bosch, Annet M. ; Brands, Marion M. ; Vliet, Danique Draaisma van ; Haijer-Schreuder, Andrea B. ; Hoytema van Konijnenburg, Eva M.M. ; Janssen, Mirian C.H. and van der Klauw, Melanie M. , et al. (2025) In Journal of Inherited Metabolic Disease 48(6).
- Contribution to journal › Article
2024
Mark Folate receptor α deficiency : Myelin‐sensitive MRI as a reliable biomarker to monitor the efficacy and long‐term outcome of a new therapeutic approach
Dreha-Kulaczewski, Steffi ; Sahoo, Prativa ; Preusse, Matthias ; Gkalimani, Irini ; Dechent, Peter ; Helms, Gunther ^LU ; Hofer, Sabine ; Steinfeld, Robert and Gärtner, Jutta (2024) In Journal of Inherited Metabolic Disease 47(2). p.387-403
- Contribution to journal › Article
2022
Mark Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population-based study
Savvidou, Antri ; Ivarsson, Liz ; Naess, Karin ; Eklund, Erik A. ^LU ; Lundgren, Johan ^LU ; Dahlin, Maria ; Frithiof, Deborah ; Sofou, Kalliopi and Darin, Niklas (2022) In Journal of Inherited Metabolic Disease 45(2). p.248-263
- Contribution to journal › Article
Mark Eye movement disorders in inborn errors of metabolism : A quantitative analysis of 37 patients
Koens, Lisette H ; Tuitert, Inge ; Blokzijl, Hans ; Engelen, Marc ; Klouwer, Femke C C ; Lange, Fiete ; Leen, Wilhelmina G ; Lunsing, Roelineke J ; Koelman, Johannes H T M and Verrips, Aad , et al. (2022) In Journal of Inherited Metabolic Disease 45(5). p.981-995
- Contribution to journal › Article
2020
Mark Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
Ng, Bobby G ; Eklund, Erik ^LU and Freeze, Hudson H. (2020) In Journal of Inherited Metabolic Disease 43(6). p.1333-1348
- 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
2019
Mark TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
Jennions, Elizabeth ; Hedberg-Oldfors, Carola ; Berglund, Anna Karin ; Kollberg, Gittan ; Törnhage, Carl Johan ; Eklund, Erik A. ^LU ; Oldfors, Anders ; Verloo, Patrick ; Vanlander, Arnaud V. and De Meirleir, Linda , et al. (2019) In Journal of Inherited Metabolic Disease 42(5). p.898-908
- Contribution to journal › Article
Mark Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
Kuiper, Anouk ; Grünewald, Stephanie ; Murphy, Elaine ; Coenen, Maraike A. ; Eggink, Hendriekje ; Zutt, Rodi ; Rubio-Gozalbo, Maria E. ; Bosch, Annet M. ; Williams, Monique and Derks, Terry G.J. , et al. (2019) In Journal of Inherited Metabolic Disease 42(3). p.451-458
- 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

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