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3 in total

1. Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution.

Authors: Maciej Machaczka; Robert Hast; Ingrid Dahlman; Richard Lerner; Monika Klimkowska; Martin Engvall; Hans Hägglund
Journal: Ups J Med Sci Date: 2012-01-17 Impact factor: 2.384

2. Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease.

Authors: Maciej Machaczka; Fryderyk Lorenz; Grazina Kleinotiene; Agnieszka Bulanda; Alicja Markuszewska-Kuczyńska; Juozas Raistenskis; Monika Klimkowska
Journal: Ups J Med Sci Date: 2013-11-06 Impact factor: 2.384

3. Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.

Authors: Maciej Machaczka; Monika Klimkowska
Journal: Ann Hematol Date: 2014-02-28 Impact factor: 3.673

3 in total