Mechtler TP[au] - Search Results

Year	Number of Results
2010	3
2011	3
2012	3
2013	3
2014	3
2015	1
2016	1
2017	2
2018	3
2020	3
2023	1
2024	0

1

Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.

Oliva P, Schwarz M, Mechtler TP, Sansen S, Keutzer J, Prusa AR, Streubel B, Kasper DC. Oliva P, et al. Among authors: mechtler tp. Mol Genet Metab. 2023 May;139(1):107563. doi: 10.1016/j.ymgme.2023.107563. Epub 2023 Mar 30. Mol Genet Metab. 2023. PMID: 37086570

2

Diagnostic strategy for females suspected of Fabry disease.

Balendran S, Oliva P, Sansen S, Mechtler TP, Streubel B, Cobos PN, Lukacs Z, Kasper DC. Balendran S, et al. Among authors: mechtler tp. Clin Genet. 2020 Apr;97(4):655-660. doi: 10.1111/cge.13694. Epub 2020 Jan 7. Clin Genet. 2020. PMID: 31860127

3

α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an 'MPS-like' phenotype.

Wiesinger T, Schwarz M, Mechtler TP, Liebmann-Reindl S, Streubel B, Kasper DC. Wiesinger T, et al. Among authors: mechtler tp. Mol Genet Metab. 2020 Jun;130(2):149-152. doi: 10.1016/j.ymgme.2020.04.001. Epub 2020 Apr 10. Mol Genet Metab. 2020. PMID: 32331969

4

Simplified newborn screening protocol for lysosomal storage disorders.

Metz TF, Mechtler TP, Orsini JJ, Martin M, Shushan B, Herman JL, Ratschmann R, Item CB, Streubel B, Herkner KR, Kasper DC. Metz TF, et al. Among authors: mechtler tp. Clin Chem. 2011 Sep;57(9):1286-94. doi: 10.1373/clinchem.2011.164640. Epub 2011 Jul 19. Clin Chem. 2011. PMID: 21771947

5

At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.

Lukacs Z, Oliva P, Nieves Cobos P, Scott J, Mechtler TP, Kasper DC. Lukacs Z, et al. Among authors: mechtler tp. Int J Neonatal Screen. 2020 Dec 21;6(4):96. doi: 10.3390/ijns6040096. Int J Neonatal Screen. 2020. PMID: 33371305 Free PMC article.

6

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.

Nowak A, Mechtler TP, Desnick RJ, Kasper DC. Nowak A, et al. Among authors: mechtler tp. Mol Genet Metab. 2017 Jan-Feb;120(1-2):57-61. doi: 10.1016/j.ymgme.2016.10.006. Epub 2016 Oct 19. Mol Genet Metab. 2017. PMID: 27773586 Free article.

7

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.

Nowak A, Mechtler TP, Hornemann T, Gawinecka J, Theswet E, Hilz MJ, Kasper DC. Nowak A, et al. Among authors: mechtler tp. Mol Genet Metab. 2018 Feb;123(2):148-153. doi: 10.1016/j.ymgme.2017.07.002. Epub 2017 Jul 5. Mol Genet Metab. 2018. PMID: 28728877

8

Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.

Mechtler TP, Metz TF, Müller HG, Ostermann K, Ratschmann R, De Jesus VR, Shushan B, Di Bussolo JM, Herman JL, Herkner KR, Kasper DC. Mechtler TP, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Nov 1;908:9-17. doi: 10.1016/j.jchromb.2012.09.012. Epub 2012 Sep 24. J Chromatogr B Analyt Technol Biomed Life Sci. 2012. PMID: 23122395 Free PMC article.

9

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.

Franzen D, Haile SR, Kasper DC, Mechtler TP, Flammer AJ, Krayenbühl PA, Nowak A. Franzen D, et al. Among authors: mechtler tp. BMJ Open Respir Res. 2018 Apr 21;5(1):e000277. doi: 10.1136/bmjresp-2018-000277. eCollection 2018. BMJ Open Respir Res. 2018. PMID: 29713479 Free PMC article.

10

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC. Mechtler TP, et al. Lancet. 2012 Jan 28;379(9813):335-41. doi: 10.1016/S0140-6736(11)61266-X. Epub 2011 Nov 29. Lancet. 2012. PMID: 22133539

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