Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Ákos Baráth"'
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, 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
Publikováno v:
Orvosi Hetilap. 158:1909-1918
Abstract: Introduction: Infant vitamin B12 deficiency can manifest as a severe neurodegenerative disorder and is usually caused by maternal deficiency due to vegetarian diet or pernicious anaemia. Its early recognition and treatment can prevent poten
Autor:
Ákos Baráth, Magdolna Kósa, Nóra Grecsó, Péter Monostori, Gábor Rácz, Zsolt Galla, Csaba Bereczki
Publikováno v:
Journal of Chromatography B. 1179:122846
Simultaneous determination of kynurenines, neurotransmitters, pterins and steroids linked to various neurological and metabolic diseases have important diagnostic significance for related pathology and drug monitoring. An improved, sensitive and sele
Autor:
Ákos Baráth, László Vécsei, Gábor Rácz, Nóra Grecsó, Zsolt Galla, Péter Monostori, Csaba Bereczki, Cecilia Rajda
Publikováno v:
Journal of Chromatography A. 1635:461775
Concurrent measurement of tyrosine, tryptophan and their metabolites, and other co-factors could help to diagnose and better understand a wide range of metabolic and neurological disorders. The two metabolic pathways are closely related to each other
Autor:
Ilona Szécsi, Csaba Bereczki, Zsolt Galla, Anita Zádori, Péter Monostori, Ákos Baráth, Nóra Grecsó
Publikováno v:
PLoS ONE, Vol 15, Iss 5, p e0233724 (2020)
PLoS ONE
PLoS ONE
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
Autor:
Ferenc, Papp, Gábor, Rácz, István, Lénárt, Jenő, Kóbor, Csaba, Bereczki, Eszter, Karg, Ákos, Baráth
Publikováno v:
Orvosi hetilap. 158(48)
Infant vitamin BTo summarize our experiences gained by screening for vitamin BClinical and laboratory data of vitamin BIn Hungary, expanded newborn screening was introduced in 2007. Since then approximately 395 000 newborns were screened in our centr
Publikováno v:
Hemodialysis International. 15:501-508
The relationship between renal disease progression and genetic polymorphism of enzymes influencing endothelial function remains incompletely understood. We genotyped three cohorts of elderly Hungarian patients: 245 patients with end-stage renal disea