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2019
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
2017
Mark The hidden Niemann-Pick type C patient : clinical niches for a rare inherited metabolic disease
Hendriksz, Christian J. ; Anheim, Mathieu ; Bauer, Peter ; Bonnot, Olivier ; Chakrapani, Anupam ; Corvol, Jean Christophe ; de Koning, Tom J. ^LU ; Degtyareva, Anna ; Dionisi-Vici, Carlo and Doss, Sarah , et al. (2017) In Current Medical Research and Opinion 33(5). p.877-890
- Contribution to journal › Article
2014
Mark Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
Wictorin, Klas ^LU ; Brådvik, Björn ^LU ; Nilsson, Karin ^LU ; Soller, Maria ^LU ; van Westen, Danielle ^LU ; Bynke, Gunnel ^LU ; Bauer, Peter ; Schöls, Ludger and Puschmann, Andreas ^LU (2014) In Parkinsonism & Related Disorders 20(7). p.748-754
- Contribution to journal › Article

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