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Review article

https://doi.org/10.13112/PC.2020.39

The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases

Ksenija Fumić


Full text: croatian pdf 350 Kb

page 269-275

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Full text: english pdf 350 Kb

page 269-275

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Abstract

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.

Keywords

RARE DISEASES; METABOLIC DISEASES; CHILDREN; EARLY DIAGNOSIS

Hrčak ID:

251942

URI

https://hrcak.srce.hr/251942

Publication date:

30.12.2020.

Article data in other languages: croatian

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