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Pregledni rad
https://doi.org/10.13112/PC.2013.7

Mucopolysaccharides: challenges on the path to treatment

Ksenija Fumić ; Klinički zavod za laboratorijsku dijagnostiku Kliničkog bolničkog centra u Zagrebu i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska
Karmen Bilić ; Klinički zavod za laboratorijsku dijagnostiku Kliničkog bolničkog centra u Zagrebu i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska
Marija Zekušić ; Klinički zavod za laboratorijsku dijagnostiku Kliničkog bolničkog centra u Zagrebu i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska
Ana Škaričić ; Klinički zavod za laboratorijsku dijagnostiku Kliničkog bolničkog centra u Zagrebu i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska
Ivo Barić ; Klinika za pedijatriju Kliničkog bolničkog centra u Zagrebu i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska

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Sažetak
In the growing number of metabolic diseases, the lysosomal storage diseases are a relatively small group consisting of appro ximately
60 diseases. Their subgroup, mucopolysaccharidoses (MPS), encompasses only 7 types of diseases (along with their subtypes), which,
due to their pathophysiological complexity, progressive course, multiorgan extent and marked clinical heterogeneity, still represent
a challenge for modern medicine. In the last ten years, a large number of patients with MPS have been involved in various treatment
programs. Currently, a variety of clinical testing is being conducted just as new possible approaches to the treatment of even more
specifi c biomarkers are being announced. The need for the earliest possible diagnosis has brought signifi cant simplifi cation of sending
the samples to laboratories, which caused fi lter paper to replace the test tube and diagnostic methods to adapt to the tandem
mass spectrometry technology (MS/MS). All these facts indicate that this subgroup of lysosomal diseases should be paid additional
attention.

Ključne riječi
mucopolysaccharidoses; glycosaminoglycans; clinical laboratory techniques; biological markers

Hrčak ID: 119827

URI
https://hrcak.srce.hr/119827

[hrvatski]

Posjeta: 251 *