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2020
Mark Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe : The European Reference Network TransplantChild
Jara, P. ; Baker, A. ; Baumann, U. ; Borobia, A. M. ; Branchereu, S. ; Candusso, M. ; Carcas, A. J. ; Chardot, C. ; Cobas, J. and D'Antiga, L. , et al. (2020) In Orphanet Journal of Rare Diseases 15(1).
- Contribution to journal › Article
2019
Mark Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; A consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
Clayton-Smith, Jill ; Bromley, Rebecca ; Dean, John ; Journel, Hubert ; Odent, Sylvie ; Wood, Amanda ; Williams, Janet ; Cuthbert, Verna ; Hackett, Latha and Aslam, Neelo , et al. (2019) In Orphanet Journal of Rare Diseases 14(1).
- Contribution to journal › Article
Mark Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
Sobrido, María Jesús ; Bauer, Peter ; De Koning, Tom ^LU ; Klopstock, Thomas ; Nadjar, Yann ; Patterson, Marc C. ; Synofzik, Matthis and Hendriksz, Chris J. (2019) In Orphanet Journal of Rare Diseases 14(1).
- Contribution to journal › Scientific review
Mark Arabidopsis thaliana alternative dehydrogenases : A potential therapy for mitochondrial complex i deficiency? Perspectives and pitfalls
Catania, Alessia ; Iuso, Arcangela ; Bouchereau, Juliette ; Kremer, Laura S. ; Paviolo, Marina ; Terrile, Caterina ; Bénit, Paule ; Rasmusson, Allan G. ^LU ; Schwarzmayr, Thomas and Tiranti, Valeria , et al. (2019) In Orphanet Journal of Rare Diseases 14(1).
- Contribution to journal › Article
2018
Mark Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation
Vajro, Pietro ; Zielinska, Katarzyna ^LU ; Ng, Bobby G. ; Maccarana, Marco ^LU ; Bengtson, Per ^LU ; Poeta, Marco ; Mandato, Claudia ; D'Acunto, Elisa ; Freeze, Hudson H. and Eklund, Erik A. ^LU (2018) In Orphanet Journal of Rare Diseases 13(1).
- Contribution to journal › Article
Mark TSC-associated neuropsychiatric disorders (TAND) : findings from the TOSCA natural history study
de Vries, Petrus J and Jansen, Anna C (2018) In Orphanet Journal of Rare Diseases 13(1). p.157-157
- Contribution to journal › Article
2017
Mark Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Tegelberg, Saara ^LU ; Tomašić, Nikica ^LU ; Kallijärvi, Jukka ^LU ; Purhonen, Janne ; Elmér, Eskil ^LU ; Lindberg, Eva ; Nord, David Gisselsson ^LU ; Soller, Maria ^LU ; Lesko, Nicole and Wedell, Anna , et al. (2017) In Orphanet Journal of Rare Diseases 12(1).
- Contribution to journal › Article
Mark The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy : An observational prospective open-label study
Van Egmond, Martje E. ; Weijenberg, Amerins ; Van Rijn, Margreet E. ; Elting, Jan Willem J. ; Gelauff, Jeannette M. ; Zutt, Rodi ; Sival, Deborah A. ; Lambrechts, Roald A. ; Tijssen, Marina A.J. and Brouwer, Oebele F. , et al. (2017) In Orphanet Journal of Rare Diseases 12(1).
- Contribution to journal › Article
2016
Mark Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions.
Brodszki, Nicholas ^LU ; Turkiewicz, Dominik ; Toporski, Jacek ^LU ; Truedsson, Lennart ^LU and Dykes, Josefina ^LU (2016) In Orphanet Journal of Rare Diseases 11(1).
- Contribution to journal › Article
Mark Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate
Mori, Michiko ^LU ; Dictor, Michael ^LU ; Brodszki, Nicholas ^LU ; López-Gutiérrez, Juan Carlos ; Beato, María ; Erjefält, Jonas S. ^LU and Eklund, Erik A. ^LU (2016) In Orphanet Journal of Rare Diseases 11(1).
- Contribution to journal › Article

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