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Joachim Janda

Explore the profile of Joachim Janda including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 72
Followers 0
Related Specialties
Environmental Health
General Medicine
Toxicology
Top 10 Co-Authors
Karsten Nodler
Jurgen G Okun
Georg F Hoffmann
Marco Scheurer
Heinz-Jurgen Brauch
Rafael Tesorero
Oliver Happel
Christian Zwiener
Nils Janzen
Frank Thomas Lange
Published In
Water Res
Clin Biochem
N Engl J Med
Environ Sci Pollut Res Int
PLoS One
Affiliations
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Recent Articles
1.
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
Laugwitz L, Mechtler T, Janzen N, Oliva P, Kasper A, Teunissen C, et al.
N Engl J Med . 2024 Sep; 391(13):1256-1258. PMID: 39292923
No abstract available.
2.
High Throughput Newborn Screening for Sickle Cell Disease - Application of Two-Tiered Testing with a qPCR-Based Primary screen
Janda J, Hegert S, Bzdok J, Tesorero R, Holtkamp U, Burggraf S, et al.
Klin Padiatr . 2023 Sep; 235(6):366-372. PMID: 37748509
Background: Sickle cell disease (SCD) is a group of hemoglobinopathies with a common point mutation causing the production of sickle cell hemoglobin (HbS). In high-throughput newborn screening (NBS) for SCD,...
3.
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
Tesorero R, Janda J, Horster F, Feyh P, Mutze U, Hauke J, et al.
PLoS One . 2023 Mar; 18(3):e0283024. PMID: 36897914
Early diagnosis of severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD) improves health outcomes by providing a specific treatment before the onset of symptoms. A...
4.
Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
Monostori P, Godejohann M, Janda J, Galla Z, Racz G, Klinke G, et al.
Clin Biochem . 2022 Oct; 111:72-80. PMID: 36202155
Objectives: 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...
5.
Closing the gap - inclusion of ultrashort-chain perfluoroalkyl carboxylic acids in the total oxidizable precursor (TOP) assay protocol
Janda J, Nodler K, Scheurer M, Happel O, Nurenberg G, Zwiener C, et al.
Environ Sci Process Impacts . 2019 Jun; 21(11):1926-1935. PMID: 31183483
An improved protocol of the total oxidizable precursor (TOP) assay was developed for precursors to C-C perfluoroalkyl carboxylic acids (PFCAs) and C-C and C perfluoroalkyl sulfonic acids (PFSAs). The proposed...
6.
Robust trace analysis of polar (C-C) perfluorinated carboxylic acids by liquid chromatography-tandem mass spectrometry: method development and application to surface water, groundwater and drinking water
Janda J, Nodler K, Brauch H, Zwiener C, Lange F
Environ Sci Pollut Res Int . 2018 Mar; 26(8):7326-7336. PMID: 29557039
A simple and robust analytical method for the determination of perfluorinated carboxylic acids (PFCAs) with C to C chains, based on solid-phase extraction (SPE) and liquid chromatography-tandem mass spectrometry (LC-MS/MS),...
7.
Small, mobile, persistent: Trifluoroacetate in the water cycle - Overlooked sources, pathways, and consequences for drinking water supply
Scheurer M, Nodler K, Freeling F, Janda J, Happel O, Riegel M, et al.
Water Res . 2017 Oct; 126:460-471. PMID: 28992593
Elevated concentrations of trifluoroacetate (TFA) of more than 100 μg/L in a major German river led to the occurrence of more than 20 μg/L TFA in bank filtration based tap...