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T. Mechtler · SciRah

Researcher profile · Semantic Scholar

T. Mechtler

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T. Mechtler — researcher profile on SciRah

h-index: 18
Works: 65
Citations: 1,052

Most-cited papers

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.
A. Nowak, T. Mechtler, R. Desnick, D. Kasper
2017Molecular Genetics and Metabolism125 citations Open access
Semantic Scholar
Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.
A. Nowak, T. Mechtler, T. Hornemann, J. Gawinecka +3 more
2017Molecular Genetics and Metabolism98 citations Open access
Semantic Scholar
The bacterial load of Ureaplasma parvum in amniotic fluid is correlated with an increased intrauterine inflammatory response.
D. Kasper, T. Mechtler, Georg H. Reischer, A. Witt +4 more
2010Diagnostic microbiology and infectious disease98 citations
Semantic Scholar
In utero exposure to Ureaplasma spp. is associated with increased rate of bronchopulmonary dysplasia and intraventricular hemorrhage in preterm infants
D. Kasper, T. Mechtler, J. Böhm, L. Petricevic +5 more
2011Journal of Perinatal Medicine81 citations
Semantic Scholar
Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.
A. Nowak, T. Mechtler, D. Kasper, R. Desnick
2017Molecular Genetics and Metabolism68 citations Open access
Semantic Scholar
Simplified newborn screening protocol for lysosomal storage disorders.
Thomas F. Metz, T. Mechtler, Joseph J. Orsini, Monica Martin +7 more
2011Clinical Chemistry63 citations
Semantic Scholar
The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals
D. Kasper, R. Ratschmann, Thomas F. Metz, T. Mechtler +5 more
2010Wiener Klinische Wochenschrift62 citations
Semantic Scholar
Serum levels of interleukin-8 and gut-associated biomarkers in diagnosing necrotizing enterocolitis in preterm infants.
T. Benkoe, T. Mechtler, M. Weninger, M. Pones +2 more
2014Journal of Pediatric Surgery60 citations
Semantic Scholar
The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots.
D. Kasper, Joseph L. Herman, V. De Jesús, T. Mechtler +2 more
2010Rapid Communications in Mass Spectrometry57 citations
Semantic Scholar
Molecular Detection of Late-Onset Neonatal Sepsis in Premature Infants Using Small Blood Volumes: Proof-of-Concept
D. Kasper, Ipek Altiok, T. Mechtler, J. Böhm +5 more
2013Neonatology44 citations
Semantic Scholar
DNA methylation pattern of CALCA in preterm neonates with bacterial sepsis as a putative epigenetic biomarker
K. Tendl, Stefan M Schulz, T. Mechtler, A. Bohn +5 more
2013Epigenetics38 citations Open access
Semantic Scholar
Diagnostic strategy for females suspected of Fabry disease
Sukirthini Balendran, Petra Oliva, S. Sansen, T. Mechtler +4 more
2019Clinical Genetics33 citations
Semantic Scholar
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.
T. Mechtler, Thomas F. Metz, Hannes G. Müller, Katharina M Ostermann +7 more
2012Journal of chromatography. B, Analytical technologies in the biomedical and life sciences25 citations Open access
Semantic Scholar
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.
L. Laugwitz, T. Mechtler, N. Janzen, Petra Oliva +18 more
2024New England Journal of Medicine22 citations
Semantic Scholar
MALDI Orbitrap mass spectrometry for fast and simplified analysis of novel street and designer drugs.
Katharina M Ostermann, Anton Luf, Nikola M Lutsch, Rebecca Dieplinger +4 more
2014Clinica chimica acta; international journal of clinical chemistry21 citations
Semantic Scholar
Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
T. Mechtler, Susanne Stary, Thomas F. Metz, V. De Jesús +5 more
2012The Lancet21 citations
Semantic Scholar
Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy
D. Franzen, S. Haile, D. Kasper, T. Mechtler +3 more
2018BMJ Open Respiratory Research20 citations Open access
Semantic Scholar
Investigating the suitability of high-resolution mass spectrometry for newborn screening: identification of hemoglobinopathies and β-thalassemias in dried blood spots
T. Wiesinger, T. Mechtler, Markus Schwarz, Xiaolei Xie +4 more
2020Clinical Chemistry and Laboratory Medicine19 citations
Semantic Scholar
α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.
T. Wiesinger, Markus Schwarz, T. Mechtler, Sandra Liebmann-Reindl +2 more
2020Molecular Genetics and Metabolism18 citations
Semantic Scholar
Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine.
Thomas F. Metz, T. Mechtler, M. Merk, Anne Gottschalk +3 more
2012Clinica chimica acta; international journal of clinical chemistry17 citations
Semantic Scholar
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide
S. Bekri, Annette Bley, Heather A Brown, C. Chanson +11 more
2024Molecular Genetics and Metabolism13 citations
Semantic Scholar
Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders
Philipp Skrinjar, Markus Schwarz, Stefan Lexmüller, T. Mechtler +5 more
2018ACS Central Science13 citations Open access
Semantic Scholar
Matrix-assisted laser desorption/ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots.
Katharina M Ostermann, Rebecca Dieplinger, Nikola M Lutsch, K. Strupat +3 more
2013Rapid Communications in Mass Spectrometry10 citations
Semantic Scholar
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Petra Oliva, Markus Schwarz, T. Mechtler, S. Sansen +4 more
2023Molecular Genetics and Metabolism9 citations
Semantic Scholar
The plasma activities of lysosomal enzymes in infants with necrotizing enterocolitis: new promising class of biomarkers?
T. Benkoe, T. Mechtler, M. Pones, A. Prusa +3 more
2015Clinica chimica acta; international journal of clinical chemistry6 citations
Semantic Scholar
Adaption of the Roche Septifast system for the early detection of neonatal sepsis in very low birthweight infants
A. Berger, Ipek Altiok, T. Mechtler, M. Langgartner +4 more
20105 citations
Semantic Scholar
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease
Sukirthini Balendran-Braun, U. Vinatzer, Sandra Liebmann-Reindl, M. Lux +5 more
2024Human Mutation4 citations Open access
Semantic Scholar
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
Z. Lukács, Petra Oliva, Paulina Nieves Cobos, Jacob B. Scott +2 more
2020International Journal of Neonatal Screening4 citations Open access
Semantic Scholar
Newborn screening for metachromatic leukodystrophy (MLD): An overview of ongoing and future studies
Michael H. Gelb, M. Wasserstein, Joseph J. Orsini, Petra Oliva +5 more
2023Molecular Genetics and Metabolism3 citations
Semantic Scholar
A MLD newborn screening pilot-study for metachromatic leukodystrophy in Germany: Results of the first 12 months
Petra Oliva, T. Mechtler, Markus Schwarz, B. Streubel +3 more
2023Molecular Genetics and Metabolism2 citations
Semantic Scholar
Newborn screening for metachromatic leukodystrophy in northern Germany
Petra Oliva, T. Mechtler, Markus Schwarz, B. Streubel +4 more
2022Molecular Genetics and Metabolism1 citations
Semantic Scholar
A click-flipped enzyme substrate boosts the performance of the diagnostic screening for Hunter syndrome
Markus Schwarz, Philipp Skrinjar, Michael F. Fink, Stefan Kronister +5 more
2020Chemical Science1 citations Open access
Semantic Scholar
Abstracts of the 28th International Workshop on Surfactant Replacement, May 31-June 1, 2013, Helsinki, Finland.
J. Kerstjens, A. Winter, A. Bos, D. Kasper +85 more
2013Neonatology1 citations
Semantic Scholar
Acid sphingomyelinase deficiency (ASMD): Genotype-phenotype correlation and variant frequency
Petra Oliva, T. Mechtler, Jake Scott, M. Gasparic +5 more
2025Molecular Genetics and Metabolism0 citations
Semantic Scholar
Differential diagnosis for mucopolysaccharidoses (MPSs) and subtype prevalence in Europe and Middle East
Markus Schwarz, Petra Oliva, T. Mechtler, Sukirhini Balendran +3 more
2025Molecular Genetics and Metabolism0 citations Open access
Semantic Scholar
Importance of including α-mannosidosis in a combined testing protocol with MPS in patients suspected of a mucopolysaccharidosis
Petra Oliva, Marie Däntl, T. Mechtler, B. Streubel +1 more
2025Molecular Genetics and Metabolism0 citations
Semantic Scholar
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)
Petra Oliva, Marie Däntl, T. Mechtler, B. Streubel +1 more
2025Molecular Genetics and Metabolism0 citations
Semantic Scholar
Diagnostic approach for Fabry disease
Petra Oliva, T. Mechtler, S. Sansen, B. Streubel +1 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
High-risk population screening for the mucopolysaccharidoses (MPS)
Markus Schwarz, T. Mechtler, Sandra Liebmann-Reindl, Petra Oliva +2 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
The ratio of Niemann-Pick disease type A/B to cases of Gaucher disease varies by country
Petra Oliva, T. Mechtler, Markus Schwarz, Jake Scott +3 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Strategy for diagnosis of neuronal ceroid lipofuscinoses
Petra Oliva, T. Mechtler, B. Streubel, D. Kasper
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Results of a prospective high risk population study for the frequency of α-mannosidosis within MPS like phenotype patients in Europe and the Middle East
Markus Schwarz, T. Mechtler, Sandra Liebmann-Reindl, Petra Oliva +3 more
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Combined assay methodology for the analysis of enzyme activities and biomarker concentrations for Fabry, Gaucher, Krabbe, Niemann Pick types A/B, and Pompe disease
Stephan T. Hold, T. Mechtler, Markus Schwarz, D. Kasper
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Results from two year pilot study for identifying inherited myopathies by combining enzymatical testing with "clinical symptomatic-based next-generation sequencing"
B. Streubel, T. Mechtler, S. Sansen, D. Kasper
2023Molecular Genetics and Metabolism0 citations
Semantic Scholar
Alpha-mannosidosis is underdiagnosed lysosomal disease
Markus Schwarz, T. Mechtler, Sandra Liebmann-Reindl, B. Streubel +1 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Diagnostic strategy for suspected cases of Fabry disease
Petra Oliva, Sukirhini Balendran, S. Sansen, T. Mechtler +2 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Rapid identification of IOPD and early-onset Pompe disease by biochemical enzymatic testing followed by genetic confirmation
Sukirhini Balendran, Petra Oliva, S. Sansen, T. Mechtler +2 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
High-risk population screening by differential diagnosis for mucopolysaccharidoses (MPSs)
Markus Schwarz, Petra Oliva, T. Mechtler, Sandra Liebmann-Reindl +3 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Prospective of newborn screening and rare disease diagnostic initiatives in Europe
T. Mechtler, Jake Scott, Markus Schwarz, A. Konstantin +2 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar
Differential diagnosis of Niemann-Pick disease type A/B in cases of suspected Gaucher disease
Petra Oliva, T. Mechtler, Markus Schwarz, Jake Scott +4 more
2022Molecular Genetics and Metabolism0 citations
Semantic Scholar

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