Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Péter Monostori"'
Autor:
Magdolna Kósa, Zsolt Galla, István Lénárt, Ákos Baráth, Nóra Grecsó, Gábor Rácz, Csaba Bereczki, Péter Monostori
Publikováno v:
Metabolites, Vol 12, Iss 11, p 1104 (2022)
Acquired vitamin B12 (vB12) deficiency (vB12D) of newborns is relatively frequent as compared with the incidence of inherited diseases included in newborn screening (NBS) of different countries across the globe. Infants may present signs of vB12D bef
Externí odkaz:
https://doaj.org/article/c8d455ee3bb347c6a851135fac0763cd
Autor:
Nóra Grecsó, Anita Zádori, Ákos Baráth, Zsolt Galla, Gábor Rácz, Csaba Bereczki, Péter Monostori
Publikováno v:
PLoS ONE, Vol 16, Iss 5, p e0252091 (2021)
In newborn screening, samples suspected for congenital adrenal hyperplasia (CAH), a potentially lethal inborn error of steroid biosynthesis, need to be confirmed using liquid chromatography-tandem mass spectrometry. Daily quality controls (QCs) for t
Externí odkaz:
https://doaj.org/article/7ca0e03bcdb04bfe8b158e79c92ea220
Autor:
Nóra Grecsó, Anita Zádori, Ilona Szécsi, Ákos Baráth, Zsolt Galla, Csaba Bereczki, Péter Monostori
Publikováno v:
PLoS ONE, Vol 15, Iss 5, p e0233724 (2020)
Congenital adrenal hyperplasia (CAH) is a severe inherited disorder of cortisol biosynthesis that is potentially lethal or can seriously affect quality of life. For the first time, we aimed to assess the stability of 21-deoxycortisol (21Deox), 11-deo
Externí odkaz:
https://doaj.org/article/a44f647a801647c0ba79675c9d05244a
Autor:
Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F Garbade, Georg F Hoffmann, Claus-Dieter Langhans, Dorothea Haas, Jürgen G Okun
Publikováno v:
PLoS ONE, Vol 14, Iss 2, p e0212458 (2019)
BACKGROUND AND AIMS:Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. They may be associated with neurological symptoms, renal stone disease or immunodeficiency. How
Externí odkaz:
https://doaj.org/article/eb684ed25e2b49e286f3b6ec96f5041f
Autor:
Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun
Publikováno v:
PLoS ONE, Vol 12, Iss 9, p e0184897 (2017)
Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relativel
Externí odkaz:
https://doaj.org/article/bd66cf4a88c6418e9714ce1baf92971c
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
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:
Miriam Heyse, Markus Zorn, Christine Schneider, Jana Hauke, Sibu Mundiyanapurath, Kathrin V. Schwarz, Jürgen G. Okun, Peter A. Ringleb, Anne Berberich, Péter Monostori, Katharina Drüschler
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in Neurology
Introduction: Trimethylamine-N-oxide (TMAO) is correlated with atherosclerosis and vascular diseases such as coronary heart disease and ischemic stroke. The aim of the study was to investigate whether TMAO levels are different in symptomatic vs. asym
Autor:
Georg F. Hoffmann, Stine Christ, Sylvia Richter, Péter Monostori, Thomas Opladen, Brigitte Schmidt-Mader, Glynis Klinke, Jürgen G. Okun, Angels García-Cazorla, Rafael Artuch, Nenad Blau
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 43(4)
BACKGROUND Laboratory investigations of cerebrospinal fluid (CSF) are essential when suspecting an inborn error of metabolism (IEM) involving neurological features. Available tests are currently performed on different analytical platforms, requiring
Autor:
Glynis Klinke, Jürgen G. Okun, Georg F. Hoffmann, Patrik Feyh, Gwendolyn Gramer, Junmin Fang-Hoffmann, Péter Monostori
Publikováno v:
World Journal of Pediatrics. 14:470-481
Newborn screening (NBS) in Germany currently includes 15 target disorders. Recent diagnostic improvements suggest an extension of the screening panel. Since August 2016, a prospective study evaluating 26 additional target disorders (25 metabolic diso