Sobrido, Maria-Jesus; Bauer, Peter; De Koning, Tom; Klopstock, Thomas; Nadjar, Yann; Patterson, Marc C.; Synofzik, Matthis; Hendriksz, Christian J.
(BioMed Central (BMC), 2019-01)
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 ...