Niemann-pick disease type C: New aspects in a long published family – Partial manifestations in heterozygotes

JIMD Reports

Volumn 12, Issue , 2014, Pages 25-29

  Harzer, Klaus ^a   Beck Wödl, Stefanie ^a   Bauer, Peter ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Bone marrow finding; Chitotriosidase activity; Leukocyte pellet; NPC1 Gene; Plasma chitotriosidase activity

Indexed keywords

EID: 85052792866     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_240     Document Type: Chapter

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