Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?

1. Sobrido, M.-J.
2. Bauer, P.
3. De Koning, T.
4. Klopstock, T.
5. Nadjar, Y.
6. Patterson, M.C.
7. Synofzik, M.
8. Hendriksz, C.J.

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DOI: 10.1186/S13023-018-0985-1 GOOGLE SCHOLAR lock_openOpen access editor

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