title: [Lysosomal storage diseases in selected clinical cases].
abstract: Lysosomal storage diseases (LSDs) are metabolic disorders that result from a situation when enzymes taking part in different processes exist in too small an amount or don't exist whatsoever. They exhibit great clinical diversification. The intensity of the symptoms depends on residual enzyme activity, type of stored material and storage speed. The common feature of all LSDs is their progressive course and reduced life expectancy. The symptoms can appear in the first few weeks of life and the patients are then referred for medical treatment to pediatricians. Older patients are referred for medical treatment to dermatologists, cardiologists, neurologists or orthopedists. There are few described cases in Poland which is due to the fact that these diseases are considered rare.
authors.affiliation: Zakład Technologii Postaci Leku, Katedra Farmacji Stosowanej, Wydział Farmaceutyczny z O ddziałem Medycyny Laboratoryjnej w Sosnowcu, Śląski Uniwersytet Medyczny, Katowice.
authors.forename: Anna
authors.initials: A
authors.lastname: Banyś
authors.affiliation: Zakład Technologii Postaci Leku, Katedra Farmacji Stosowanej, Wydział Farmaceutyczny z O ddziałem Medycyny Laboratoryjnej w Sosnowcu, Śląski Uniwersytet Medyczny, Katowice.
authors.forename: Aneta
authors.initials: A
authors.lastname: Ostróżka-Cieślik
authors.affiliation: Zakład Technologii Postaci Leku, Katedra Farmacji Stosowanej, Wydział Farmaceutyczny z O ddziałem Medycyny Laboratoryjnej w Sosnowcu, Śląski Uniwersytet Medyczny, Katowice.
authors.forename: Beata
authors.initials: B
authors.lastname: Sarecka-Hujar
mesh_terms: D000328:Adult; D000368:Aged; D016026:Bone Marrow Transplantation / Q000379:methods; D064987:Cell- and Tissue-Based Therapy / Q000379:methods; D002648:Child; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D056947:Enzyme Replacement Therapy / Q000379:methods; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000188:drug therapy / Q000628:therapy*; D008875:Middle Aged; D010347:Patient Care Planning / Q000458:organization & administration*; D011044:Poland; D055815:Young Adult
chemical_list: D004791:Enzyme Inhibitors