Two cases of neuronopathic form of Gaucher disease – diagnostic difficulties

Autor: Kleinotienė, Gražina, Ivaškevičienė, Austėja, Tylki-Szymanska, Anna

Publikováno v: Acta Biochimica Polonica, Warszawa : Polskie Towarzystwo Biochemiczne (Polish Biochemical Society), 2022, vol. 69, no. 1, p. 119-122
Acta Biochimica Polonica, Warszawa : Polskie Towarzystwo Biochemiczne (Polish Biochemical Society), 2021, first published online, p. [1-4]

Background: Gaucher disease is one of the most common inherited lysosomal storage diseases caused by the deficiency of the enzyme β-glucocerebrosidase, leading to the accumulation of glucocerebroside. Depending on the clinical manifestations, two di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c2d6332c683013c8d8855d1ce1e1934
https://doi.org/10.18388/abp.2020_5760

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