TY  - JOUR 
AU  - Sobrido Gómez, María Jesús
AU  - Bauer, P.
AU  - de Koning, T.
AU  - Klopstock, T.
AU  - Nadjar, Y.
AU  - Patterson, M. C.
AU  - Synofzik, M.
AU  - Hendriksz, C. J.
PY  - 2019
SN  - 1750-1172
UR  - http://hdl.handle.net/20.500.11940/15549
AB  - BACKGROUND: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) serves to...
TI  - Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
DO  - 10.1186/s13023-018-0985-1
T2  - Orphanet Journal of Rare Diseases
M2  - 20
KW  - IDIS
KW  - CHUS
VL  - 14
ER  -