Výsledky vyhledávání - "Miljenka Maradin"

Capillary blood sampling: national recommendations on behalf of the Croatian Society of Medical Biochemistry and Laboratory Medicine

Autor: Jasna Lenicek Krleza, Miljenka Maradin, Adrijana Dorotić, Ana Grzunov

Publikováno v: Biochemia Medica
Volume 25
Issue 3

Capillary blood sampling is a medical procedure aimed at assisting in patient diagnosis, management and treatment, and is increasingly used worldwide, in part because of the increasing availability of point-of-care testing. It is also frequently used

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4dc64f7740a5bab8c8549287d61d76b
https://hrcak.srce.hr/148678

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NovelOCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

Autor: G. T. N. Besley, Rodney J. Pollitt, Linda De Meirleir, Ivo Barić, Ingrid Tein, Carlo Dionisi-Vici, Ljerka Cvitanovic-Sojat, Anne Marie Lamhonwah, P. Divry, Simon E. Olpin, Miljenka Maradin, Russell Onizuka, Christine Vianey-Saban, Nathalie Guffon, Ksenija Fumić

Publikováno v: American Journal of Medical Genetics. 111:271-284

Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encepha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c779178e34bb52a93fd812f4be624499
https://doi.org/10.1002/ajmg.10585

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[Vitamin B12 deficiency in children--underestimated danger in the light of new knowledge]

Autor: Karin, Juras, Ksenija, Fumić, Senka, Izaković, Silvija, Puseljić, Vida, Culić, Slobodan, Galić, Andrea Dasović, Buljević, Vesna, Benjak, Ana, Colić, Sanda Huljev, Frković, Miljenka, Maradin, Vladimir, Sarnavka, Karmen, Bilić, Matthias, Baumgartner, Ivo, Barić

Publikováno v: Lijecnicki vjesnik. 133(1-2)

Vitamin B12 (cobalamin) has two active forms, adenosylcobalamin and methylcobalamin which have a key role in two important metabolic pathways in humans and their deficiency is responsible for clinical problems. Cobalamin is essential during whole lif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a1eefecf911c33a8098daf9c7d760a9f
https://pubmed.ncbi.nlm.nih.gov/21644278

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MANJAK VITAMINA B12 U DJECE – PODCIJENJENA OPASNOST U SVJETLU NOVIH SPOZNAJA

Autor: Karin Juras, Ksenija Fumić, Senka Ižaković, Silvija Pušeljić, Vida Čulić, Slobodan Galić, Andrea Dasović Buljević, Vesna Benjak, Ana Čolić, Sanda Huljev Frković, Miljenka Maradin, Vladimir Sarnavka, Karmen Bilić, Matthias Baumgartner, Ivo Barić

Publikováno v: Liječnički vjesnik
Volume 133
Issue 1-2

Vitamin B12 (kobalamin) ima dva aktivna oblika, adenozilkobalamin i metilkobalamin, koji imaju ključnu ulogu u dvama važnim metaboličkim putovima u ljudi i njihov je manjak odgovoran za kliničke teškoće u bolesnika. Kobalamin je nuždan tijekom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______951::81902961d751414a576ec7a4c36c3067
https://hrcak.srce.hr/file/253259

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Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations

Autor: Laszlo Wenchich, Sanja Dorner, Ivo Barić, Hana Hansikova, Jiri Zeman, Marketa Tesarova, Ksenija Fumić, Vladimir Sarnavka, Miljenka Maradin

Publikováno v: ResearcherID

Fumaric aciduria is a rare, autosomal recessive disorder caused by deficient acitivity of fumarate hydratase (FH), one of the constituent enzymes of the Krebs’ s cycle. The most common clinical features are hypotonia, failure to thrive, severe deve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd39943e2b3edd6b398ac69df7c8d45

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S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy

Autor: Mario Ćuk, Conrad Wagner, Oliver Vugrek, Vladimir Sarnavka, Igor P. Pogribny, Miljenka Maradin, S. H. Mudd, Sally P. Stabler, Ksenija Fumić, Robert H. Allen, Andreas Schulze, B. Glenn, Steven H. Zeisel, Ivo Barić, Leo Pažanin, Marko Radoš

S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency has been proven in a human only once, in a recently described Croatian boy. Here we report the clinical course and biochemical abnormalities of the younger brother of this proband. This younger bro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96d02a69b6cc89d771f3e5b12c1f0d05
https://www.bib.irb.hr/212646

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[Glutaric aciduria type 1: an example of the importance of early detection of so-called cerebral organic aciduria]

Autor: Ivo, Barić, Kresimir, Baraka, Miljenka, Maradin, Dorotea, Bartonicek, Vladimir, Sarnavka, Davor, Begović, Ksenija, Fumić

Publikováno v: Lijecnicki vjesnik. 125(11-12)

Glutaric aciduria type 1 (GA 1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder. Typically between 6 and 18 months of age, a non-specific illness such as respiratory or gastrointestina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::785f6b67871173ff033736eb29bf1209
https://pubmed.ncbi.nlm.nih.gov/15209027

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A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity

Autor: Vladimir Sarnavka, Miljenka Maradin, R. J. A. Wanders, Ksenija Fumić, Ivo Barić, Jos P.N. Ruiter, Davor Begović

Publikováno v: Journal of inherited metabolic disease, 24(1), 81-82. Springer Netherlands

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7b7877a2e605093267326d0ecd3105
https://doi.org/10.1023/a:1005671109585

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