The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases
DOI:
https://doi.org/10.13112/PC.2020.39Keywords:
RARE DISEASES, METABOLIC DISEASES, CHILDREN, EARLY DIAGNOSISAbstract
Neurometabolic diseases in children are an ever-increasing group of rare diseases. One of the major reasons for this is the availability of new technologies used in selective laboratory diagnostics and newborn screening for inherited metabolic disorders. Such availability also furnishes clinicians with the opportunity to select diagnostic approach. Rapid development of new therapeutic possibilities for an ever-rising number of neurometabolic disorders at the same time imposes the need for early diagnosis and appropriate monitoring of the course of therapy. It is possible to respond to these challenges by multidisciplinary approach to a diseased child, while support of the society is an important factor.
Downloads
Published
Issue
Section
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
By publishing in Paediatria Croatica, authors retain the copyright to their work and grant others the right to use, reproduce, and share their research articles in accordance with the Creative Commons Attribution License (CC BY 4.0), which allows others to distribute and build upon the work as long as they credit the author for the original creation.
