Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Ziga Iztok Remec"'
Autor:
Matej Mlinaric, James R. Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterström, Urh Groselj
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 2, p 21 (2023)
The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pand
Externí odkaz:
https://doaj.org/article/d1e0d653a37a462d8bb60eb6f67c5f2c
Autor:
Dasa Perko, Urh Groselj, Vanja Cuk, Ziga Iztok Remec, Mojca Zerjav Tansek, Ana Drole Torkar, Blaz Krhin, Ajda Bicek, Adrijana Oblak, Tadej Battelino, Barbka Repic Lampret
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2487 (2023)
Phenylketonuria (PKU) was the first disease to be identified by the newborn screening (NBS) program. Currently, there are various methods for determining phenylalanine (Phe) values, with tandem mass spectrometry (MS/MS) being the most widely used met
Externí odkaz:
https://doaj.org/article/7f850ac0c53a43e7bf1389df59d86ce9
Autor:
Jaka Sikonja, Jernej Brecelj, Mojca Zerjav Tansek, Barbka Repic Lampret, Ana Drole Torkar, Simona Klemencic, Neza Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovac, Barbara Faganel Kotnik, Marketa Tesarova, Ziga Iztok Remec, Marusa Debeljak, Tadej Battelino, Urh Groselj
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100836- (2022)
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment.We presented the follow up of
Externí odkaz:
https://doaj.org/article/9f13cc7dddfa42528e11ec36f92ce8fe
Autor:
Vanesa Koracin, Matej Mlinaric, Ivo Baric, Ian Brincat, Maja Djordjevic, Ana Drole Torkar, Ksenija Fumic, Mirjana Kocova, Tatjana Milenkovic, Florentina Moldovanu, Vjosa Mulliqi Kotori, Michaela Iuliana Nanu, Ziga Iztok Remec, Barbka Repic Lampret, Dimitrios Platis, Alexey Savov, Mira Samardzic, Biljana Suzic, Ildiko Szatmari, Alma Toromanovic, Mojca Zerjav Tansek, Tadej Battelino, Urh Groselj
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Significant part of Southeastern Europe (with a population of 76 million) has newborn screening (NBS) programs non-harmonized with developed European countries. Initial survey was conducted in 2013/2014 among 11 countries from the region (Albania, Bu
Externí odkaz:
https://doaj.org/article/ec423af9e8d3444db4d23e83a269945c
Autor:
Dasa Perko, Barbka Repic Lampret, Ziga Iztok Remec, Mojca Zerjav Tansek, Ana Drole Torkar, Blaz Krhin, Ajda Bicek, Adrijana Oblak, Tadej Battelino, Urh Groselj
Publikováno v:
Genes, Vol 13, Iss 3, p 517 (2022)
Phenylketonuria (PKU) was the first disorder for which newborn screening (NBS) was introduced in the early 1960s. Slovenia started the NBS program for PKU in 1979, and the fluorimetric method was implemented in 1992, with a phenylalanine (Phe) cut-of
Externí odkaz:
https://doaj.org/article/6683473bb54444a0888f790a96e76916
Publikováno v:
Slovenska pediatrija, Vol 31, Iss 2, Pp 77-84 (2024)
Presejalno testiranje novorojenčkov (PTN) je ena svetovnih javnozdravstvenih zgodb o uspehu. Izvaja se v veliki večini razvitih držav sveta, razlikuje pa se le po obsegu in usmeritvah testiranja. Najbolj obsežni programi presejalnega testiranja n
Externí odkaz:
https://doaj.org/article/f03a6504629740fc92c0d30298914e7c
Publikováno v:
Slovenska pediatrija, Vol 31, Iss 2, Pp 77-84 (2024)
Newborn Screening (NBS) is one of the most significant and successful public health initiatives globally. Implemented in various capacities across most developed countries, NBS programs vary in scope and focus, with the most comprehensive screening f
Externí odkaz:
https://doaj.org/article/dd4a15bb232747c89bea1b84ec3ad413
Autor:
Urh Groselj, Jernej Kovač, Tadej Battelino, Barbka Repic Lampret, Maruša Debeljak, Katarina Trebušak Podkrajšek, Tine Tesovnik, Ziga Iztok Remec
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
Newborn screening was first introduced at the beginning of the 1960s with the successful implementation of the first phenylketonuria screening programs. Early expansion of the included disorders was slow because each additional disorder screened requ
Autor:
Ivo Barić, Ildikó Szatmári, Vjosa Kotori, Urh Groselj, Matej Mlinaric, Mira Samardzic, Maja Djordjevic, Mojca Zerjav Tansek, Vanesa Koracin, Ian Brincat, Biljana Suzic, Alma Toromanovic, Michaela Iuliana Nanu, Tadej Battelino, Dimitrios Platis, Mirjana Kocova, Barbka Repic Lampret, Ksenija Fumić, Ziga Iztok Remec, Florentina Moldovanu, Tatjana Milenkovic, Ana Drole Torkar, Alexey Savov
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics
Frontiers in Pediatrics
Significant part of Southeastern Europe (with a population of 76 million) has newborn screening (NBS) programs non-harmonized with developed European countries. Initial survey was conducted in 2013/2014 among 11 countries from the region (Albania, Bu
Autor:
Ana Drole Torkar, Jernej Kovač, Mojca Zerjav Tansek, Tadej Battelino, Vanja Cuk, Blanka Ulaga, Neza Lipovec, Maruša Debeljak, Dasa Perko, Urh Groselj, Ziga Iztok Remec, Barbka Repic Lampret
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism with a variable presentation. The aim of this study was to describe five patients with VLCADD diagnosed through the pilot study