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pro vyhledávání: '"Katelin E. J. Scott"'
Autor:
Kiersten Campbell, Niamh X. Cawley, Rachel Luke, Katelin E. J. Scott, Nicholas Johnson, Nicole Y. Farhat, Derek Alexander, Christopher A. Wassif, Wenping Li, Stephanie M. Cologna, Elizabeth Berry-Kravis, An Dang Do, Ryan K. Dale, Forbes D. Porter
Publikováno v:
Biomarker Research, Vol 11, Iss 1, Pp 1-19 (2023)
Abstract Background Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive, lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive impairment. Although the NPC1 phenotype is heterogeneous with variable age of
Externí odkaz:
https://doaj.org/article/8ae5ae9914ad4795b2ed86f8f4902c36