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
downloads: 293
cite
APA 6th Edition
Fumić, K. (2020). The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases. Paediatria Croatica, 64 (4), 269-275. https://doi.org/10.13112/PC.2020.39
MLA 8th Edition
Fumić, Ksenija. "The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases." Paediatria Croatica, vol. 64, no. 4, 2020, pp. 269-275. https://doi.org/10.13112/PC.2020.39. Accessed 13 Mar. 2025.
Chicago 17th Edition
Fumić, Ksenija. "The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases." Paediatria Croatica 64, no. 4 (2020): 269-275. https://doi.org/10.13112/PC.2020.39
Harvard
Fumić, K. (2020). 'The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases', Paediatria Croatica, 64(4), pp. 269-275. https://doi.org/10.13112/PC.2020.39
Vancouver
Fumić K. The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases. Paediatria Croatica [Internet]. 2020 [cited 2025 March 13];64(4):269-275. https://doi.org/10.13112/PC.2020.39
IEEE
K. Fumić, "The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases", Paediatria Croatica, vol.64, no. 4, pp. 269-275, 2020. [Online]. https://doi.org/10.13112/PC.2020.39
Full text: english pdf 350 Kb
page 269-275
downloads: 2.050
cite
APA 6th Edition
Fumić, K. (2020). The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases. Paediatria Croatica, 64 (4), 269-275. https://doi.org/10.13112/PC.2020.39
MLA 8th Edition
Fumić, Ksenija. "The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases." Paediatria Croatica, vol. 64, no. 4, 2020, pp. 269-275. https://doi.org/10.13112/PC.2020.39. Accessed 13 Mar. 2025.
Chicago 17th Edition
Fumić, Ksenija. "The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases." Paediatria Croatica 64, no. 4 (2020): 269-275. https://doi.org/10.13112/PC.2020.39
Harvard
Fumić, K. (2020). 'The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases', Paediatria Croatica, 64(4), pp. 269-275. https://doi.org/10.13112/PC.2020.39
Vancouver
Fumić K. The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases. Paediatria Croatica [Internet]. 2020 [cited 2025 March 13];64(4):269-275. https://doi.org/10.13112/PC.2020.39
IEEE
K. Fumić, "The role of laboratory diagnostics in diagnostic workup of children with suspected rare neurometabolic diseases", Paediatria Croatica, vol.64, no. 4, pp. 269-275, 2020. [Online]. https://doi.org/10.13112/PC.2020.39
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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