Перегляд Кафедра педіатрії №2 за автором "Sinchuk, N. I."

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  • Clinical presentation of a patient with a severe form of pompe disease 
    Olkhovych, N. V.; Pichkur, N. A.; Ivanova, T. P.; Gorovenko, N. G.; Sinchuk, N. I. (2011)
    Pompe disease is a lysosomal storage disorder resulting from a deficiency of lysosomal acid a-gluco-sidase (GAA). Pompe disease has been classified as infantile onset or late onset; a single disease with a variable age at ...
  • Different treatment outcomes in Gaucher disease type 1: case studies 
    Sinchuk, N. I.; Dudnyk, V. M. (Cogent Medicine, 2021)
    The initial diagnosis of Gaucher disease (GD) is based on the β-glucosidase enzyme activity. However, similar levels of enzymes are not a predictor of treatment outcomes in different patients.