Detalhe da pesquisa
1.
Application of Normal-Phase Silica Column in Hydrophilic Interaction Liquid Chromatography Mode for Simultaneous Determination of Underivatized Amino Acids from Human Serum Samples via Liquid Chromatography-Tandem Mass Spectrometry.
Curr Issues Mol Biol
; 45(12): 9354-9367, 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38132432
2.
Association between interferon-induced helicase (IFIH1) rs1990760 polymorphism and seasonal variation in the onset of type 1 diabetes mellitus.
Pediatr Diabetes
; 19(2): 300-304, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28929635
3.
[Diagnostics of inborn errors of metabolism: laboratory approaches]. / Ritka örökletes anyagcsere-betegségek diagnosztikája: laboratóriumi vizsgálati megközelítések.
Orv Hetil
; 158(48): 1903-1907, 2017 Dec.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29172660
4.
Quantitative Analytical Method for the Determination of Biotinidase Activity in Dried Blood Spot Samples.
Anal Chem
; 87(20): 10573-8, 2015 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26400555
5.
Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences.
Int J Neonatal Screen
; 9(3)2023 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37754773
6.
Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening.
Clin Biochem
; 111: 72-80, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36202155
7.
Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism.
Anal Chem
; 84(22): 10113-20, 2012 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23094949
8.
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era.
Mol Genet Metab Rep
; 32: 100897, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35845719
9.
Quality of life in children living with PKU - a single-center, cross-sectional, observational study from Hungary.
Mol Genet Metab Rep
; 29: 100823, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34900594
10.
Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
Life (Basel)
; 11(6)2021 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34072668
11.
Current Status of Newborn Screening in Southeastern Europe.
Front Pediatr
; 9: 648939, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34026686
12.
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
Int J Neonatal Screen
; 7(1)2021 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33808002
13.
[Changes of lactate levels in diabetic ketoacidosis and in newly diagnosed type 1 diabetes mellitus]. / Laktátszintváltozások diabeteses ketoacidosisban és frissen diagnosztizált 1-es típusú diabetes mellitusban.
Orv Hetil
; 160(45): 1784-1790, 2019 Nov.
Artigo
em Húngaro
| MEDLINE | ID: mdl-31680540