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Dijagnostički izazovi i liječenje nasljednih bolesti stvaranja energije u mitohondrijima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::1e5939040393e889f50d693835ccfaa4
https://www.bib.irb.hr/545152
https://www.bib.irb.hr/545152
ESR1, LPL, and APO E genetic polymorphic variants could represent predictive genetic risk markers for lipid status and obesity in young healthy subjects.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::85b9b6e01bc00652c39aa7443c0dc351
https://www.bib.irb.hr/435849
https://www.bib.irb.hr/435849
Genske polimorfne varijante ESR1, LPL i APO E mogli bi predstavljati prediktivne genske biljege za status lipida i pretilosti u mladih zdravih ispitanika. Mediteranski tip prehrane je također važan pozitivan faktor kod abdominalne pretilosti.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::4dc5096cb35f884bd82c7617d9598229
https://www.bib.irb.hr/398950
https://www.bib.irb.hr/398950
Autor:
Muačević-Katanec, D, Kekez, T, Fumić, K, Krznarić, Ž, Merkler, M, Pećin, I, Reiner, Ž, Merćep, I
There is wide diversity of etiologies of perforation classified as nontraumatic spontaneous small intestine perforation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::8b8e39fd15933bd14bbd80ff25c4bb48
https://www.bib.irb.hr/435744
https://www.bib.irb.hr/435744
Fabry disease is a rare, X-linked recessive lysosomal storage disease caused by a deficiency of the lysosomal enzyme α-galactosidase A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::ac7529dc2223b1a87407e856c5f7165c
https://www.bib.irb.hr/435746
https://www.bib.irb.hr/435746
Autor:
Mitrović, Z, Muačević-Katanec, D, Fumić, K, Žarković, K, Merkler, M, Merćep, I, Kisić H, Reiner, Ž
Pompse disease or acid maltase deficiency or glycogenosis type II is rare lysosomal storage disease due to the mutations of acid alpha-glucoside gene (GAA) on chromosome 17q25.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::8fc9ae6a71cd34fe3e7f6d20e62fb39a
https://www.bib.irb.hr/435742
https://www.bib.irb.hr/435742
Varijacije i povezanost s pretilošću i statusom lipida.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::0760012ba5ce2ae5e37b182f183c819c
https://www.bib.irb.hr/436198
https://www.bib.irb.hr/436198
Loše životne navike se gomilaju u bolesnika sa arterijskom hipertenzijom. Nadamo se kako će CRASH inicijativa povećati svjesnost i poboljšati liječenje u bolesnika sa povišenim kardiovaskularnim rizikom.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::498889e34f802fc8d57e4680f4a00297
https://www.bib.irb.hr/398870
https://www.bib.irb.hr/398870
Fabryeva bolest pripada skupini rijetkih nasljednih metaboličkih bolesti, iz grupe lizosomskih bolesti nakupljanja. Prevalencija ove bolesti je u Europskoj populaciji 1:117.000. bolest je posljedica nedostatka enzima alfa-galaktozidaze A te nakuplja
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::5c2064af3a14062aae0eb494f2f9a1e2
https://www.bib.irb.hr/398792
https://www.bib.irb.hr/398792