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pro vyhledávání: '"Milos Hejtman MD"'
Autor:
Julia Jecel MD, Klaus Harzer MD, Eduard Paschke MD, Stefanie Beck-Wödl PhD, Peter Bauer MD, Milos Hejtman MD, Regina Katzenschlager MD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease. We report on a juvenile onset, now 25-year-old female patient with typical neurologic symptoms, including vertical gaze palsy, of NP-C. The diag
Externí odkaz:
https://doaj.org/article/131059c19cf646209d7ff25627ee9170
