Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ildiko Szatmari"'
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:
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:
J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 15 (2021)
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass
Externí odkaz:
https://doaj.org/article/b2da148c817c463e8d75115a3ccc2d88
Publikováno v:
Respiratory Therapeutics Week; 10/13/2023, p787-787, 1p
Publikováno v:
Diabetes; Jun2009 Supplement 1, Vol. 58 Issue S1, pA1-A646, 646p, 5 Black and White Photographs, 3 Diagrams, 354 Charts, 182 Graphs
Autor:
Hall, Kate
Publikováno v:
International Journal of Neonatal Screening (IJNS); Dec2021, Vol. 7 Issue 4, p71-71, 1p
Autor:
Varma H. Rambaran, Nalini K. Singh
Apart from diet and exercise, the strategic use of different classes of prescribed or non-prescribed xenobiotic compounds for the restoration of euglycemic levels in the body is well known. The ongoing rivalry between the recommended usage of allopat