Kasper DC - Search Results

1

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.

Bekri S, Bley A, Brown HA, Chanson C, Church HJ, Gelb MH, Hong X, Janzen N, Kasper DC, Mechtler T, Morton G, Murko S, Oliva P, Tebani A, Wu THY. Bekri S, et al. Among authors: kasper dc. Mol Genet Metab. 2024 May;142(1):108436. doi: 10.1016/j.ymgme.2024.108436. Epub 2024 Mar 22. Mol Genet Metab. 2024. PMID: 38552449

2

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: kasper dc. 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.

3

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.

Nowak A, Mechtler T, Kasper DC, Desnick RJ. Nowak A, et al. Among authors: kasper dc. Mol Genet Metab. 2017 Aug;121(4):320-324. doi: 10.1016/j.ymgme.2017.06.006. Epub 2017 Jun 17. Mol Genet Metab. 2017. PMID: 28663131

4

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: kasper dc. Clin Genet. 2020 Apr;97(4):655-660. doi: 10.1111/cge.13694. Epub 2020 Jan 7. Clin Genet. 2020. PMID: 31860127

5

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: kasper dc. 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

6

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: kasper dc. 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

7

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: kasper dc. Int J Neonatal Screen. 2020 Dec 21;6(4):96. doi: 10.3390/ijns6040096. Int J Neonatal Screen. 2020. PMID: 33371305 Free PMC article.

8

Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine.

Metz TF, Mechtler TP, Merk M, Gottschalk A, Lukačin R, Herkner KR, Kasper DC. Metz TF, et al. Among authors: kasper dc. Clin Chim Acta. 2012 Aug 16;413(15-16):1259-64. doi: 10.1016/j.cca.2012.04.007. Epub 2012 Apr 12. Clin Chim Acta. 2012. PMID: 22521492

9

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: kasper dc. 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

10

Investigating the suitability of high-resolution mass spectrometry for newborn screening: identification of hemoglobinopathies and β-thalassemias in dried blood spots.

Wiesinger T, Mechtler T, Schwarz M, Xie X, Grosse R, Nieves Cobos P, Kasper D, Lukacs Z. Wiesinger T, et al. Clin Chem Lab Med. 2020 Apr 28;58(5):810-816. doi: 10.1515/cclm-2019-0832. Clin Chem Lab Med. 2020. PMID: 32031968

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