Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Vladimir Sarnavka"'
Autor:
Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić
Publikováno v:
Liječnički vjesnik, Vol 145, Iss 1-2, Pp 1-11 (2023)
The aim of our study was to describe the characteristics of patients with classical galactosemia in Croatia, with the description of patients with galactokinase deficiency and a patient who was a double heterozygote for mutations of the galactose-1-p
Externí odkaz:
https://doaj.org/article/172aeb75c94342c59411f163b00e629a
Autor:
Ruža Grizelj, Nina Barišić, Mario Ćuk, Boris Filipović Grčić, Željka Mustapić, Dorotea Bartoniček, Ivan Lehman, Andrea Dasović Buljević, Ivo Barić, Danijela Petković Ramadža, Jasna Slaviček, Dorotea Ninković, Vesna Benjak, Ksenija Fumić, Vladimir Sarnavka, Jasminka Stipanović Kastelić
Publikováno v:
Klinische Padiatrie. 231(2)
Hyperammonemic encephalopathy in newborns with urea cycle disorders and certain organic acidurias can cause severe brain injury, coma and death. Standard therapy includes protein restriction, nitrogen-scavenging drugs, prevention of catabolism and he
Autor:
Isabel Tavares de Almeida, Ivo Barić, Bernarda Lozić, Silvija Pušeljić, Vjekoslav Krželj, Maria João Silva, Jurica Vuković, Isabel Rivera, Danijela Petković Ramadža, Vladimir Sarnavka, Hana Pereira, Ksenija Fumić
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEMReferences. 31(1)
Background: Classic galactosemia is an autosomal recessive disorder of galactose metabolism caused by severely decreased activity of galactose-1-phosphate uridylyltransferase (GALT) due to pathogenic mutations in the GALT gene. To date more than 330
Autor:
Marija Zekušić, Ksenija Fumić, Karmen Bilić, Ana Škaričić, Danijela Petković Ramadža, Tamara Žigman, Vladimir Sarnavka, Mario Ćuk, Ivo Barić, Dunja Rogić
Publikováno v:
Paediatria Croatica
Volume 61
Issue 1
Volume 61
Issue 1
Rijetke bolesti etiološki su heterogena skupina najčešće nasljednih, kroničnih i degenerativnih bolesti s pojavnošću manjom od 5 na 10 000 osoba. Poznato je više od 7000 rijetkih bolesti od kojih više od 600 ima osobitosti nasljednih metabol
Autor:
Barbka Repic Lampret, Mariana Muresan, Husref Tahirović, Maria Ivanova, Maja Stojiljkovic, Mojca Zerjav Tansek, Mira Samardzic, Adil Kadam, Tadej Battelino, Otilia Margineanu, Urh Groselj, Oana Marginean, Florentina Moldovanu, Vjosa Kotori, Michaela Iuliana Nanu, Simona Murko, Ivo Barić, Olivera Milijanovic, Natalija Angelkova, Dana Anton, Vladimir Sarnavka, Alma Toromanovic, Radka Tincheva, Aleksei Savov, Natalia Usurelu, Maja Djordjevic, Biljana Suzic, Hajrija Maksic, Andraz Smon, Lindita Grimci
Publikováno v:
Molecular Genetics and Metabolism. 113:42-45
The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria scre
Autor:
René Santer, Mario Ćuk, Vladimir Sarnavka, Dorotea Ninković, Danijela Petković Ramadža, Anica Bašnec, Ivo Barić, Ksenija Fumić, Vesna Kušec
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 29
Hyperinsulinism-hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease characterized by recurrent hypoglycemia and persistent mild elevation of plasma ammonia. HI/HA syndrome is one of the more common forms of congenital hyperinsulinism
Autor:
David Meili, Vladimir Sarnavka, Danijela Petković Ramadža, Caroline Heintz, Beat Thöny, Ksenija Fumić, Duško Mardešić, Ivo Barić, Iva Karačić, Nenad Blau
Publikováno v:
Molecular Genetics and Metabolism. 97:165-171
Specific mutations in the gene encoding phenylalanine hydroxylase (PAH), located on chromosome 12q22-24.1, are linked to tetrahydrobiopterin (BH4; sapropterin)-responsive phenylketonuria (PKU). Diagnosis is usually done through the newborn screening
Autor:
Danijela Petković Ramadža, Mario Ćuk, Karin Zibar, Marina Barić, Vladimir Sarnavka, Karmen Bilić, Ksenija Fumić, Jurica Vuković, Silvija Pušeljić, Marijana Ćorić, Ranka Štern Padovan, Marko Kralik, Ivo Barić
Publikováno v:
Liječnički vjesnik
Volume 137
Issue 3-4
Volume 137
Issue 3-4
Manjak lizosomske kisele lipaze autosomno je recesivno nasljedna bolest s dva klinička fenotipa. Wolmanova bolest počinje u ranoj dojenačkoj dobi i brzo je progresivna. Zbog masivnog nakupljanja kolesterolskih estera i triglicerida u crijevima, je
Autor:
Biljana Suzic, Maja Stojiljkovic, Mojca Zerjav Tansek, Otilia Margineanu, Michaela Iuliana Nanu, Oana Marginean, Ivo Barić, Husref Tahirović, Mira Samardzic, Mariana Muresan, Urh Groselj, Natalija Angelkova, Vjosa Kotori, Tadej Battelino, Maja Djordjevic, Radka Tincheva, Aleksei Savov, Natalia Usurelu, Hajrija Maksic, Adil Kadam, Olivera Miljanovic, Lindita Grimci, Florentina Moldovanu, Maria Ivanova, Dana Anton, Vladimir Sarnavka, Alma Toromanovic
Publikováno v:
Orphanet Journal of Rare Diseases
Background We aimed to assess the current state of PKU screening and management in the region of southeastern Europe. Methods A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from So
Autor:
Marijan Katalenić, Dunja Nöthig-Hus, Juraj Smoje, Zvonko Kusić, Vesna Jureša, Sunčica Novosel, Ivan Karner, Antoinette Kaić-Rak, Nina Dabelić, Željka Labar, Elika Mesaroš-Kanjski, Ljerka Lukinac, Vladimir Sarnavka, Sanja Rončević, Nada Milanović, Ante Staničić, Marija Punda
Publikováno v:
Journal of Endocrinological Investigation. 26:738-742
This study was performed in 2002, 6 yr after the introduction of a new regulation on salt iodination with 25 mg KI/kg of salt. The aim of the study was to evaluate whether further significant positive results of improved iodine intake could be observ