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Items: 1 to 50 of 54

1.

Diagnostic strategy for females suspected of Fabry disease.

Balendran S, Oliva P, Sansen S, Mechtler TP, Streubel B, Cobos PN, Lukacs Z, Kasper DC.

Clin Genet. 2019 Dec 20. doi: 10.1111/cge.13694. [Epub ahead of print]

PMID:
31860127
2.

Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker.

López-Sainz Á, Climent V, Ripoll-Vera T, Espinosa MA, Barriales-Villa R, Navarro M, Limeres J, Domingo D, Kasper DC, Garcia-Pavia P.

Orphanet J Rare Dis. 2019 Jul 8;14(1):170. doi: 10.1186/s13023-019-1140-3.

3.

Vaginal Ureaplasma parvum serovars and spontaneous preterm birth.

Rittenschober-Böhm J, Waldhoer T, Schulz SM, Pimpel B, Goeral K, Kasper DC, Witt A, Berger A.

Am J Obstet Gynecol. 2019 Jun;220(6):594.e1-594.e9. doi: 10.1016/j.ajog.2019.01.237. Epub 2019 Feb 5.

PMID:
30735669
4.

Targeted Metabolomic Profiling of Peritoneal Dialysis Effluents Shows Anti-oxidative Capacity of Alanyl-Glutamine.

Wiesenhofer FM, Herzog R, Boehm M, Wagner A, Unterwurzacher M, Kasper DC, Alper SL, Vychytil A, Aufricht C, Kratochwill K.

Front Physiol. 2019 Jan 21;9:1961. doi: 10.3389/fphys.2018.01961. eCollection 2018.

5.

Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders.

Skrinjar P, Schwarz M, Lexmüller S, Mechtler TP, Zeyda M, Greber-Platzer S, Trometer J, Kasper DC, Mikula H.

ACS Cent Sci. 2018 Dec 26;4(12):1688-1696. doi: 10.1021/acscentsci.8b00668. Epub 2018 Dec 6.

6.

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.

Remiche G, Lukacs Z, Kasper DC, Abramowicz M, Pandolfo M.

J Neuromuscul Dis. 2018;5(4):471-480. doi: 10.3233/JND-180336.

PMID:
30175981
7.

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.

BMJ Open Respir Res. 2018 Apr 21;5(1):e000277. doi: 10.1136/bmjresp-2018-000277. eCollection 2018.

8.

First Trimester Vaginal Ureaplasma Biovar Colonization and Preterm Birth: Results of a Prospective Multicenter Study.

Rittenschober-Böhm J, Waldhoer T, Schulz SM, Stihsen B, Pimpel B, Goeral K, Hafner E, Sliutz G, Kasper DC, Witt A, Berger A.

Neonatology. 2018;113(1):1-6. doi: 10.1159/000480065. Epub 2017 Sep 22.

PMID:
28934751
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.

Mol Genet Metab. 2018 Feb;123(2):148-153. doi: 10.1016/j.ymgme.2017.07.002. Epub 2017 Jul 5.

PMID:
28728877
10.

Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving.

Prusa AR, Kasper DC, Sawers L, Walter E, Hayde M, Stillwaggon E.

PLoS Negl Trop Dis. 2017 Jul 10;11(7):e0005648. doi: 10.1371/journal.pntd.0005648. eCollection 2017 Jul.

11.

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.

Mol Genet Metab. 2017 Aug;121(4):320-324. doi: 10.1016/j.ymgme.2017.06.006. Epub 2017 Jun 17.

PMID:
28663131
12.

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

Nowak A, Mechtler TP, Desnick RJ, 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.

13.

Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.

Okun JG, Gan-Schreier H, Ben-Omran T, Schmidt KV, Fang-Hoffmann J, Gramer G, Abdoh G, Shahbeck N, Al Rifai H, Al Khal AL, Haege G, Chiang CC, Kasper DC, Wilcken B, Burgard P, Hoffmann GF.

JIMD Rep. 2017;32:87-94. doi: 10.1007/8904_2016_556. Epub 2016 Jun 21.

14.

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, Mistry PK, Verma IC.

JIMD Rep. 2017;31:15-27. doi: 10.1007/8904_2016_548. Epub 2016 Mar 24.

15.

Feasibility of Metabolomics Analysis of Dialysate Effluents from Patients Undergoing Peritoneal Equilibration Testing.

Csaicsich D, Lichtenauer AM, Vychytil A, Kasper DC, Herzog R, Aufricht C, Kratochwill K.

Perit Dial Int. 2015 Sep-Oct;35(5):590-2. doi: 10.3747/pdi.2014.00118. No abstract available.

16.

Bloodstream infections during the onset of necrotizing enterocolitis and their relation with the pro-inflammatory response, gut wall integrity and severity of disease in NEC.

Heida FH, Hulscher JB, Schurink M, van Vliet MJ, Kooi EM, Kasper DC, Pones M, Bos AF, Benkoe TM.

J Pediatr Surg. 2015 Nov;50(11):1837-41. doi: 10.1016/j.jpedsurg.2015.07.009. Epub 2015 Jul 14.

PMID:
26259559
17.

Intestinal fatty acid-binding protein levels in Necrotizing Enterocolitis correlate with extent of necrotic bowel: results from a multicenter study.

Heida FH, Hulscher JB, Schurink M, Timmer A, Kooi EM, Bos AF, Bruggink JL, Kasper DC, Pones M, Benkoe T.

J Pediatr Surg. 2015 Jul;50(7):1115-8. doi: 10.1016/j.jpedsurg.2014.11.037. Epub 2014 Nov 21.

PMID:
25783297
18.

Amniocentesis for the detection of congenital toxoplasmosis: results from the nationwide Austrian prenatal screening program.

Prusa AR, Kasper DC, Pollak A, Olischar M, Gleiss A, Hayde M.

Clin Microbiol Infect. 2015 Feb;21(2):191.e1-8. doi: 10.1016/j.cmi.2014.09.018. Epub 2014 Oct 29.

19.

Cost-Effectiveness-Analysis of The New-Born Screening in Austria.

Walter E, Kasper DC.

Value Health. 2014 Nov;17(7):A343. doi: 10.1016/j.jval.2014.08.688. Epub 2014 Oct 26. No abstract available.

20.

Serum levels of interleukin-8 and gut-associated biomarkers in diagnosing necrotizing enterocolitis in preterm infants.

Benkoe TM, Mechtler TP, Weninger M, Pones M, Rebhandl W, Kasper DC.

J Pediatr Surg. 2014 Oct;49(10):1446-51. doi: 10.1016/j.jpedsurg.2014.03.012. Epub 2014 Apr 18.

PMID:
25280644
21.

The Austrian Toxoplasmosis Register, 1992-2008.

Prusa AR, Kasper DC, Pollak A, Gleiss A, Waldhoer T, Hayde M.

Clin Infect Dis. 2015 Jan 15;60(2):e4-e10. doi: 10.1093/cid/ciu724. Epub 2014 Sep 12.

PMID:
25216688
22.

The plasma activities of lysosomal enzymes in infants with necrotizing enterocolitis: new promising class of biomarkers?

Benkoe TM, Mechtler TP, Pones M, Prusa AR, Klebermass-Schrehof K, Rebhandl W, Kasper DC.

Clin Chim Acta. 2015 Jan 1;438:279-83. doi: 10.1016/j.cca.2014.08.043. Epub 2014 Sep 6.

PMID:
25204835
23.

MALDI Orbitrap mass spectrometry for fast and simplified analysis of novel street and designer drugs.

Ostermann KM, Luf A, Lutsch NM, Dieplinger R, Mechtler TP, Metz TF, Schmid R, Kasper DC.

Clin Chim Acta. 2014 Jun 10;433:254-8. doi: 10.1016/j.cca.2014.03.013. Epub 2014 Mar 22.

PMID:
24667699
24.

Austrian Newborn Screening Program: a perspective of five decades.

Pollak A, Kasper DC.

J Perinat Med. 2014 Mar;42(2):151-8. doi: 10.1515/jpm-2013-0113. Review.

PMID:
24225125
25.

DNA methylation pattern of CALCA in preterm neonates with bacterial sepsis as a putative epigenetic biomarker.

Tendl KA, Schulz SM, Mechtler TP, Bohn A, Metz T, Greber-Platzer S, Kasper DC, Herkner KR, Item CB.

Epigenetics. 2013 Dec;8(12):1261-7. doi: 10.4161/epi.26645. Epub 2013 Oct 17.

26.

Reply to Klitz and Niklasson: Can viral infections explain the cross-sectional Austrian diabetes data?

Thurner S, Klimek P, Szell M, Duftschmid G, Endel G, Kautzky-Willer A, Kasper DC.

Proc Natl Acad Sci U S A. 2013 Jul 23;110(30):E2751. No abstract available.

27.

Matrix-assisted laser desorption/ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots.

Ostermann KM, Dieplinger R, Lutsch NM, Strupat K, Metz TF, Mechtler TP, Kasper DC.

Rapid Commun Mass Spectrom. 2013 Jul 15;27(13):1497-504. doi: 10.1002/rcm.6597.

PMID:
23722684
28.

Quantification of excess risk for diabetes for those born in times of hunger, in an entire population of a nation, across a century.

Thurner S, Klimek P, Szell M, Duftschmid G, Endel G, Kautzky-Willer A, Kasper DC.

Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4703-7. doi: 10.1073/pnas.1215626110. Epub 2013 Mar 4.

29.

Molecular detection of late-onset neonatal sepsis in premature infants using small blood volumes: proof-of-concept.

Kasper DC, Altiok I, Mechtler TP, Böhm J, Straub J, Langgartner M, Pollak A, Herkner KR, Berger A.

Neonatology. 2013;103(4):268-73. doi: 10.1159/000346365. Epub 2013 Mar 12.

PMID:
23485823
30.

Urinary metabolomic markers of aminoglycoside nephrotoxicity in newborn rats.

Hanna MH, Segar JL, Teesch LM, Kasper DC, Schaefer FS, Brophy PD.

Pediatr Res. 2013 May;73(5):585-91. doi: 10.1038/pr.2013.34. Epub 2013 Feb 14.

31.

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.

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.

32.

Evaluation of serological prenatal screening to detect Toxoplasma gondii infections in Austria.

Prusa AR, Kasper DC, Olischar M, Husslein P, Pollak A, Hayde M.

Neonatology. 2013;103(1):27-34. doi: 10.1159/000342625. Epub 2012 Sep 26.

PMID:
23018152
33.

Evaluation of the liaison automated testing system for diagnosis of congenital toxoplasmosis.

Prusa AR, Hayde M, Pollak A, Herkner KR, Kasper DC.

Clin Vaccine Immunol. 2012 Nov;19(11):1859-63. doi: 10.1128/CVI.00489-12. Epub 2012 Sep 26.

34.

The predictive value of immature granulocyte count and immature myeloid information in the diagnosis of neonatal sepsis.

Cimenti C, Erwa W, Herkner KR, Kasper DC, Müller W, Resch B.

Clin Chem Lab Med. 2012 Feb 23;50(8):1429-32. doi: 10.1515/cclm-2011-0656.

PMID:
22868809
35.

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.

Clin Chim Acta. 2012 Aug 16;413(15-16):1259-64. doi: 10.1016/j.cca.2012.04.007. Epub 2012 Apr 12.

PMID:
22521492
36.

Asparagine and aspartic acid concentrations in bone marrow versus peripheral blood during Berlin-Frankfurt-Münster-based induction therapy for childhood acute lymphoblastic leukemia.

Steiner M, Hochreiter D, Kasper DC, Kornmüller R, Pichler H, Haas OA, Pötschger U, Hutter C, Dworzak MN, Mann G, Attarbaschi A.

Leuk Lymphoma. 2012 Sep;53(9):1682-7. doi: 10.3109/10428194.2012.668681. Epub 2012 Apr 18.

PMID:
22356135
37.

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.

Lancet. 2012 Jan 28;379(9813):335-41. doi: 10.1016/S0140-6736(11)61266-X. Epub 2011 Nov 29.

PMID:
22133539
38.

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.

Clin Chem. 2011 Sep;57(9):1286-94. doi: 10.1373/clinchem.2011.164640. Epub 2011 Jul 19.

PMID:
21771947
39.

In utero exposure to Ureaplasma spp. is associated with increased rate of bronchopulmonary dysplasia and intraventricular hemorrhage in preterm infants.

Kasper DC, Mechtler TP, Böhm J, Petricevic L, Gleiss A, Spergser J, Witt A, Herkner KR, Berger A.

J Perinat Med. 2011 May;39(3):331-6. doi: 10.1515/JPM.2011.022.

PMID:
21526978
40.

Tetanus immunity in neonates in a developed country.

Prusa AR, Wiedermann U, Kasper DC, Hayde M, Helmer H, Pollak A, Förster-Waldl E.

Neonatology. 2011;100(1):52-6. doi: 10.1159/000320637. Epub 2011 Jan 5.

PMID:
21212696
41.

Peritoneal dialysis fluid induces p38-dependent inflammation in human mesothelial cells.

Riesenhuber A, Kratochwill K, Bender TO, Vargha R, Kasper DC, Herzog R, Salzer E, Aufricht C.

Perit Dial Int. 2011 May-Jun;31(3):332-9. doi: 10.3747/pdi.2009.00206. Epub 2010 Dec 30.

PMID:
21193553
42.

The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals.

Kasper DC, Ratschmann R, Metz TF, Mechtler TP, Möslinger D, Konstantopoulou V, Item CB, Pollak A, Herkner KR.

Wien Klin Wochenschr. 2010 Nov;122(21-22):607-13. doi: 10.1007/s00508-010-1457-3. Epub 2010 Oct 15.

PMID:
20938748
43.

Evaluation of the Roche Elecsys Toxo IgG and IgM electrochemiluminescence immunoassay for the detection of gestational Toxoplasma infection.

Prusa AR, Hayde M, Unterasinger L, Pollak A, Herkner KR, Kasper DC.

Diagn Microbiol Infect Dis. 2010 Dec;68(4):352-7. doi: 10.1016/j.diagmicrobio.2010.07.011. Epub 2010 Sep 29.

PMID:
20884150
44.

MicroRNA-146: tiny player in neonatal innate immunity?

Lederhuber H, Baer K, Altiok I, Sadeghi K, Herkner KR, Kasper DC.

Neonatology. 2011;99(1):51-6. doi: 10.1159/000301938. Epub 2010 Jul 9.

PMID:
20616571
45.

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.

Kasper DC, Herman J, De Jesus VR, Mechtler TP, Metz TF, Shushan B.

Rapid Commun Mass Spectrom. 2010 Apr 15;24(7):986-94. doi: 10.1002/rcm.4496.

PMID:
20209662
46.

The bacterial load of Ureaplasma parvum in amniotic fluid is correlated with an increased intrauterine inflammatory response.

Kasper DC, Mechtler TP, Reischer GH, Witt A, Langgartner M, Pollak A, Herkner KR, Berger A.

Diagn Microbiol Infect Dis. 2010 Jun;67(2):117-21. doi: 10.1016/j.diagmicrobio.2009.12.023. Epub 2010 Mar 5.

PMID:
20207094
47.

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.

Kasper DC, Iqbal F, Dvorakova L, Zeman J, Magner M, Bodamer O, Pollak A, Herkner KR, Item CB.

Clin Chim Acta. 2010 Mar;411(5-6):345-50. doi: 10.1016/j.cca.2009.11.027. Epub 2009 Nov 29.

PMID:
19954743
48.

Stress responses and conditioning effects in mesothelial cells exposed to peritoneal dialysis fluid.

Kratochwill K, Lechner M, Siehs C, Lederhuber HC, Rehulka P, Endemann M, Kasper DC, Herkner KR, Mayer B, Rizzi A, Aufricht C.

J Proteome Res. 2009 Apr;8(4):1731-47. doi: 10.1021/pr800916s.

PMID:
19231869
49.

Quantitative real-time polymerase chain reaction for the accurate detection of Toxoplasma gondii in amniotic fluid.

Kasper DC, Sadeghi K, Prusa AR, Reischer GH, Kratochwill K, Förster-Waldl E, Gerstl N, Hayde M, Pollak A, Herkner KR.

Diagn Microbiol Infect Dis. 2009 Jan;63(1):10-5. doi: 10.1016/j.diagmicrobio.2008.09.009. Epub 2008 Nov 6.

PMID:
18990529
50.

Evaluation of the Vitros ECiQ immunodiagnostic system for detection of anti-Toxoplasma immunoglobulin G and immunoglobulin M antibodies for confirmatory testing for acute Toxoplasma gondii infection in pregnant women.

Kasper DC, Prusa AR, Hayde M, Gerstl N, Pollak A, Herkner KR, Reiter-Reisacher R.

J Clin Microbiol. 2009 Jan;47(1):164-7. doi: 10.1128/JCM.01435-08. Epub 2008 Nov 5.

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