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

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

Author: Sobrido, Maria-Jesus; Bauer, Peter; de Koning, Tom; Klopstock, Thomas; Nadjar, Yann; Patterson, Marc C.; Synofzik, Matthis; Hendriksz, Chris J.
Tübinger Autor(en):
Bauer, Peter
Synofzik, Matthis Benjamin
Published in: Orphanet Journal of Rare Diseases (2019), Bd. 14, Article 20
Verlagsangabe: Bmc
Language: English
Full text: http://dx.doi.org/10.1186/s13023-018-0985-1
ISSN: 1750-1172
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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