Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
- DOI
- 10.1186/s13023-018-0985-1
- Published
- 2019-01-21
- Container
- Orphanet Journal of Rare Diseases
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1186/s13023-018-0985-1,
title = {Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?},
author = {María-Jesús Sobrido and Peter Bauer and Tom de Koning and Thomas Klopstock and Yann Nadjar and Marc C Patterson and Matthis Synofzik and Chris J Hendriksz},
year = {2019},
journal = {Orphanet Journal of Rare Diseases},
doi = {10.1186/s13023-018-0985-1},
url = {https://doi.org/10.1186/s13023-018-0985-1}
}RIS
TY - JOUR TI - Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? AU - María-Jesús Sobrido AU - Peter Bauer AU - Tom de Koning AU - Thomas Klopstock AU - Yann Nadjar AU - Marc C Patterson AU - Matthis Synofzik AU - Chris J Hendriksz PY - 2019 JO - Orphanet Journal of Rare Diseases DO - 10.1186/s13023-018-0985-1 UR - https://doi.org/10.1186/s13023-018-0985-1 ER -
APA
Sobrido, M., Bauer, P., Koning, T. D., Klopstock, T., Nadjar, Y., Patterson, M. C., Synofzik, M., & Hendriksz, C. J. (2019). Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-018-0985-1
Source records
- crossref · retrieved 2026-11-10T21:17:28.518Z