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pro vyhledávání: '"H. Poupčtová"'
Autor:
K. Sandhoff, Milan Elleder, Befekadu Asfaw, Jiri Zeman, H. Pavlů-Pereira, Marie T. Vanier, D. Chudoba, H. Poupčtová, Zorka Novotna, Jana Ledvinová, Jakub Sikora
Publikováno v:
Journal of Inherited Metabolic Disease. 28:203-227
A multi-approach study in a series of 25 Czech and Slovak patients with acid sphingomyelinase deficiency revealed a broad phenotypic variability within Niemann-Pick disease types A and B. The clinical manifestation of only 9 patients fulfilled the hi