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Pregledni rad

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


Puni tekst: hrvatski pdf 350 Kb

str. 269-275

preuzimanja: 172

citiraj

Puni tekst: engleski pdf 350 Kb

str. 269-275

preuzimanja: 1.511

citiraj


Sažetak

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.

Ključne riječi

RARE DISEASES; METABOLIC DISEASES; CHILDREN; EARLY DIAGNOSIS

Hrčak ID:

251942

URI

https://hrcak.srce.hr/251942

Datum izdavanja:

30.12.2020.

Podaci na drugim jezicima: hrvatski

Posjeta: 2.288 *