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Journal article
Sobrido, Maria-Jesus; Bauer, Peter; de Koning, Tom; Klopstock, Thomas; Nadjar, Yann; Patterson, Marc C.; Synofzik, Matthis and Hendriksz, Chris J.
(2019):
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
In: Orphanet Journal of Rare Diseases, Vol. 14, 20
[PDF, 696kB]