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Molecular Genetics and Metabolism
|
October 25, 2016
Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes
Albina Nowak, Thomas P Mechtler, Robert J Desnick, et al.
International Journal of Neonatal Screening
|
December 29, 2020
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
Zoltan Lukacs, Petra Oliva, Paulina Nieves Cobos, et al.
Molecular Genetics and Metabolism
|
April 26, 2020
α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype
Thomas Wiesinger, Markus Schwarz, Thomas P Mechtler, et al.
Journal of Pediatric Surgery
|
October 5, 2014
Serum levels of interleukin-8 and gut-associated biomarkers in diagnosing necrotizing enterocolitis in preterm infants
Thomas M Benkoe, Thomas P Mechtler, Manfred Weninger, et al.
Molecular Genetics and Metabolism
|
July 22, 2017
Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease
Albina Nowak, Thomas P Mechtler, Thorsten Hornemann, et al.
Rapid Communications in Mass Spectrometry : RCM
|
March 9, 2010
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
David C Kasper, Joseph Herman, Victor R De Jesus, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 24, 2012
Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine
Thomas F Metz, Thomas P Mechtler, Michael Merk, et al.
Molecular Genetics and Metabolism
|
April 22, 2023
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
Petra Oliva, Markus Schwarz, Thomas P Mechtler, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 11, 2014
The plasma activities of lysosomal enzymes in infants with necrotizing enterocolitis: new promising class of biomarkers?
Thomas M Benkoe, Thomas P Mechtler, Mario Pones, et al.
Clinical Genetics
|
December 21, 2019
Diagnostic strategy for females suspected of Fabry disease
Sukirthini Balendran, Petra Oliva, Stefaan Sansen, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 23) with videos related to
Sort By:
Page
of 3
Molecular Genetics and Metabolism
|
October 25, 2016
Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes
Albina Nowak, Thomas P Mechtler, Robert J Desnick, et al.
International Journal of Neonatal Screening
|
December 29, 2020
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
Zoltan Lukacs, Petra Oliva, Paulina Nieves Cobos, et al.
Molecular Genetics and Metabolism
|
April 26, 2020
α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype
Thomas Wiesinger, Markus Schwarz, Thomas P Mechtler, et al.
Journal of Pediatric Surgery
|
October 5, 2014
Serum levels of interleukin-8 and gut-associated biomarkers in diagnosing necrotizing enterocolitis in preterm infants
Thomas M Benkoe, Thomas P Mechtler, Manfred Weninger, et al.
Molecular Genetics and Metabolism
|
July 22, 2017
Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease
Albina Nowak, Thomas P Mechtler, Thorsten Hornemann, et al.
Rapid Communications in Mass Spectrometry : RCM
|
March 9, 2010
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
David C Kasper, Joseph Herman, Victor R De Jesus, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 24, 2012
Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine
Thomas F Metz, Thomas P Mechtler, Michael Merk, et al.
Molecular Genetics and Metabolism
|
April 22, 2023
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
Petra Oliva, Markus Schwarz, Thomas P Mechtler, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 11, 2014
The plasma activities of lysosomal enzymes in infants with necrotizing enterocolitis: new promising class of biomarkers?
Thomas M Benkoe, Thomas P Mechtler, Mario Pones, et al.
Clinical Genetics
|
December 21, 2019
Diagnostic strategy for females suspected of Fabry disease
Sukirthini Balendran, Petra Oliva, Stefaan Sansen, et al.
Page
of 3