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Professional paper - Review paper
Pompeova bolest – rijetka bolest nakupljanja glikogena
Medicina Fluminensis : Medicina Fluminensis, 50 (2014), 2; 197-205. urn:nbn:hr:184:707269
Sonnenschein, Ivan; Bučuk, Mira; Pongrac, Petra; Tomić, Zoran

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Sonnenschein, I., Bučuk, M., Pongrac, P. & Tomić, Z. (2014). Pompeova bolest – rijetka bolest nakupljanja glikogena. Medicina Fluminensis : Medicina Fluminensis, 50. (2), 197-205. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:707269

Sonnenschein, Ivan, et al. "Pompeova bolest – rijetka bolest nakupljanja glikogena." Medicina Fluminensis : Medicina Fluminensis, vol. 50, no. 2, 2014, pp. 197-205. https://urn.nsk.hr/urn:nbn:hr:184:707269

Sonnenschein, Ivan, Mira Bučuk, Petra Pongrac and Zoran Tomić. "Pompeova bolest – rijetka bolest nakupljanja glikogena." Medicina Fluminensis : Medicina Fluminensis 50, no. 2 (2014): 197-205. https://urn.nsk.hr/urn:nbn:hr:184:707269

Sonnenschein, I., et al. (2014) 'Pompeova bolest – rijetka bolest nakupljanja glikogena', Medicina Fluminensis : Medicina Fluminensis, 50(2), pp. 197-205. Available at: https://urn.nsk.hr/urn:nbn:hr:184:707269 (Accessed 11 November 2024)

Sonnenschein I, Bučuk M, Pongrac P, Tomić Z. Pompeova bolest – rijetka bolest nakupljanja glikogena. Medicina Fluminensis : Medicina Fluminensis [Internet]. 2014 June 02 [cited 2024 November 11];50(2):197-205. Available at: https://urn.nsk.hr/urn:nbn:hr:184:707269

I. Sonnenschein, M. Bučuk, P. Pongrac and Z. Tomić, "Pompeova bolest – rijetka bolest nakupljanja glikogena", Medicina Fluminensis : Medicina Fluminensis, vol. 50, no. 2, pp. 197-205, June 2014. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:707269. [Accessed: 11 November 2024]

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Metadata
Title (croatian)Pompeova bolest – rijetka bolest nakupljanja glikogena
Title (english)Pompe disease – a rare glycogen storage disease
AuthorIvan Sonnenschein
AuthorMira Bučuk
AuthorPetra Pongrac
AuthorZoran Tomić
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Neurology)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Abstract (croatian)
Pompeova bolest (PB) je autosomno recesivni poremećaj uzrokovan nedostatnošću alfa glukozidaze (lizosomskog enzima) koji oslobađa glukozu iz glikogena. U dojenačkoj dobi (rani oblik PB-a) nedostatak enzima je potpun, uzrokujući vrlo tešku kliničku sliku izrazite mišićne slabosti, hipertrofične kardiomiopatije, hepatomegalije i makroglosije. U djece, adolescenata i odraslih (kasni oblik PB-a) nedostatak enzima je djelomičan. Ovi pacijenti imaju manje izraženu mišićnu slabost, većinom u nogama, nemaju kardiomiopatiju, imaju česte respiratorne probleme zbog slabosti dijafragme i respiratornih mišića. Godine 2006. institucije Europe i SAD-a (EMEA i FDA) odobrile su uporabu enzimske zamjenske terapije u pacijenata s ranim i kasnim oblikom PB-a.
Abstract (english)
Pompe disease (PD, autosomal recessive disorder) is caused by deficient activity of lysosomal alfa glucosidase enzyme (releases glucose from glycogen). A complete deficit in infants (early onset PD) leads to a severe clinical presentation with extreme muscle weakness, hypertrophic cardiomyopathy, hepatomegaly and macroglossia. Partial deficiency in children, adolescent and adults (later onset PD), leads to less prominent muscle weakness (mostly legs) and cardiomyopathy is rare, but respiratory problems due to diaphragmatic and respiratory muscle weakness are often. In 2006, the European and US authorities (EMEA and FDA) approved the application of enzyme replacement therapy for early and late onset PD.
Keywords (croatian)
Keywords (english)
Languagecroatian
Publication typeProfessional paper - Review paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMedicina Fluminensis : Medicina Fluminensis
Numberingvol. 50, no. 2, pp. 197-205
p-ISSN0025-7729
URN:NBNurn:nbn:hr:184:707269
Publication2014-06-02
Document URLhttp://hrcak.srce.hr/121872
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-04-26 11:33:43