Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Ildikó, Szatmári"'
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 12, Pp 9354-9367 (2023)
In neonatal screening, amino acids have a significant diagnostic role. Determination of their values may identify abnormal conditions. Early diagnosis and continuous monitoring of amino acid disorders results in a better disease outcome. An easy and
Externí odkaz:
https://doaj.org/article/4eb864985ce64482a26fe9cd1d7225f0
Autor:
Andrea Xue, István Lénárt, Judit Kincs, Hajnalka Szabó, Andrea Párniczky, István Balogh, Anna Deák, Péter Béla Monostori, Krisztina Hegedűs, Attila J. Szabó, Ildikó Szatmári
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 47 (2023)
The aim of this study is to evaluate the strategy of the cystic fibrosis newborn screening (CFNBS) programme in Hungary based on the results of the first year of screening. A combined immunoreactive trypsinogen (IRT) and pancreatitis-associated prote
Externí odkaz:
https://doaj.org/article/33e10d86ad0c4f319a9b3710cff1f77c
Autor:
Dóra Becsei, Erika Kiss, Ildikó Szatmári, András Arató, György Reusz, Attila J. Szabó, János Bókay, Petra Zsidegh
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100897- (2022)
Background: Patients with phenylketonuria (PKU) must maintain a lifelong natural protein-restricted diet to prevent neuro-cognitive damage. Early diagnosis is established with newborn screening, with diet subsequently controlled by regular phenylalan
Externí odkaz:
https://doaj.org/article/cbab2b25d772421bae68fa62fa968aa9
Autor:
Tamás Kaucsár, Bálint Mikes, Kata Kelen, Eszter Jávorszky, Ildikó Szatmári, Deján Dobi, Kinga Nyikuly, Ildikó Várkonyi, Erika Maka, Antal Dezsőfi-Gottl, István Máttyus, Csaba Lódi, Kálmán Tory, Péter Sallay, J. Attila Szabó, György Reusz
Publikováno v:
Hypertonia és Nephrologia. 26:276-281
A primer hyperoxaluria ritka anyagcsere-betegség. A glioxilát anyagcserezavara miatt nagy mennyiségű oxalát keletkezik, amely – mivel rosszul oldódik – a szövetekben oxalátkicsapódáshoz, oxalosishoz vezet. Az oxalosis elsőként a vesé
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6a2c0d5fcd11500c505d6b01484de26
https://doi.org/10.33668/hn.26.030
https://doi.org/10.33668/hn.26.030
Autor:
Péter Monostori, Markus Godejohann, Joachim Janda, Zsolt Galla, Gábor Rácz, Glynis Klinke, Ildikó Szatmári, Petra Zsidegh, Dirk Kohlmüller, Stefan Kölker, Georg F. Hoffmann, Gwendolyn Gramer, Jürgen G. Okun
Publikováno v:
Clinical biochemistry.
Determination of methylmalonic acid (MMA) from dried blood spots (DBS) is commonly performed in clinical diagnostics and newborn screening for propionic acidemia (PA) and methylmalonic acidemia. Isobaric compounds of MMA having the same mass can affe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b74d8d2706bad0be11827f84d06f3ed
https://pubmed.ncbi.nlm.nih.gov/36202155
https://pubmed.ncbi.nlm.nih.gov/36202155
Autor:
Borbála, Mikos, Ildikó, Szatmári, Péter, Monostori, Judit, Molnár Mária, Csaba, Bereczki, Attila, Szabó, Katalin, Csõsz, Béla, Muzsik, János, Velkey György
Publikováno v:
Gyermekgyógyászat; 2023, Vol. 74 Issue 3, p125-131, 7p
Autor:
Andrea Luczay, Petra Zsidegh, Péter Tóth-Heyn, Kinga Jenei, Eszter Szabó, Anjum Mariam, Ildikó Szatmári
Publikováno v:
Orvosi Hetilap. 160:1784-1790
Abstract: Introduction: It is known that lactate concentration is increased in diabetic ketoacidosis (DKA), however, the pathophysiology and kinetics of lactate changes are still unclear. Normally, L-lactate is the major form in the human body. Accor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc9531325d11808d66351c1e529d2b00
https://doi.org/10.1556/650.2019.31533
https://doi.org/10.1556/650.2019.31533
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::922557920e39686bee9572250bbf004a
https://doi.org/10.3389/fped.2021.648939
https://doi.org/10.3389/fped.2021.648939
Autor:
Zita Jobbágy, Lívia Dézsi, Veronika Harmath, Agnes Herczegfalvi, Ildikó Szatmári, Anikó Gál, Beata Borsos, Zsuzsanna Almássy, Levente Kerényi, Zoltán Grosz, Katalin Szakszon, Eniko Balku, Mária Judit Molnár, Laszló Jávor, Ágnes Sebők
Publikováno v:
Life, Vol 11, Iss 507, p 507 (2021)
Life
Volume 11
Issue 6
Life
Volume 11
Issue 6
Pompe disease is caused by the accumulation of glycogen in the lysosomes due to a deficiency of the lysosomal acid-α-glucosidase (GAA) enzyme. Depending on residual enzyme activity, the disease manifests two distinct phenotypes. In this study, we as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06fbe1a13934d6087ff1e0b7a141262
https://www.mdpi.com/2075-1729/11/6/507
https://www.mdpi.com/2075-1729/11/6/507
Autor:
Maximilian Zeyda, Viktor Kozich, Dimitris Platis, Damilya Salimbayeva, Patricia Borde, Jurgita Songailiene, Vyacheslav Mitkin, Dobry Dimitrov, Basak Tezel, David Cheillan, Nazi Tabatadze, Tatjana Milenkovic, Rolf Zetterström, Loretta O'Grady, Urh Groselj, Mirjana Kocova, Leifur Franzson, François Boemer, Natalia Usurelu, Ian Brincat, Maria Knapkova, Anastasiia Kremezna, James R. Bonham, Eugènie H. B. M. Dekkers, Peter C. J. I. Schielen, Mira Samardzic, Parsla Vevere, Danijela Ramadza, Shlomo Almashanu, Rolf D. Pettersen, Ruth Mikelsaar, Mariusz Ołtarzewski, Vjosa Kotori, Florentina Moldovanu, Marios Vogazianos, Ralph Fingerhut, Raquel Yahyaoui, Ildikó Szatmári, David M. Hougaard, J. Gerard Loeber, Uta Ceglarek, Riikka Kurkijärvi, Alma Toromanovic, Irina Tovmasyan, Markhabo Shamsiddinova, Giancarlo la Marca, Laura Vilarinho
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩
Volume 7
Issue 1
International journal of neonatal screening, Basel : MDPI, 2021, vol. 7, iss. 1, art. no. 15, p. [1-21]
International Journal of Neonatal Screening, Vol 7, Iss 15, p 15 (2021)
International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩
Volume 7
Issue 1
International journal of neonatal screening, Basel : MDPI, 2021, vol. 7, iss. 1, art. no. 15, p. [1-21]
International Journal of Neonatal Screening, Vol 7, Iss 15, p 15 (2021)
International audience; 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 introduc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a8d05e2876f51b49ff9cea9d13f73c4
https://www.hal.inserm.fr/inserm-03337431/file/IJNS-07-00015-v3.pdf
https://www.hal.inserm.fr/inserm-03337431/file/IJNS-07-00015-v3.pdf
