Streubel B - Search Results

1

Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss.

Holy R, Hlozkova T, Prochazkova K, Kalfert D, Hybnerova F, Ebelova D, Streubel B, Chovanec M, Gal B, Linhart A, Astl J. Holy R, et al. Among authors: streubel b. J Appl Biomed. 2021 Mar;19(1):57-61. doi: 10.32725/jab.2021.003. Epub 2021 Jan 28. J Appl Biomed. 2021. PMID: 34907716 Free article.

2

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Frei K, Lucas T. Parzefall T, et al. Among authors: streubel b. Eur Arch Otorhinolaryngol. 2017 Oct;274(10):3619-3625. doi: 10.1007/s00405-017-4699-0. Epub 2017 Aug 18. Eur Arch Otorhinolaryngol. 2017. PMID: 28821934 Free PMC article.

3

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. Among authors: streubel b. Lancet. 2012 Jan 28;379(9813):335-41. doi: 10.1016/S0140-6736(11)61266-X. Epub 2011 Nov 29. Lancet. 2012. PMID: 22133539

4

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.

Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Gstoettner W, Frei K, Lucas T. Parzefall T, et al. Among authors: streubel b. Wien Klin Wochenschr. 2018 May;130(9-10):299-306. doi: 10.1007/s00508-017-1230-y. Epub 2017 Jul 21. Wien Klin Wochenschr. 2018. PMID: 28733840 Free PMC article.

5

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

6

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: streubel b. Clin Chem. 2011 Sep;57(9):1286-94. doi: 10.1373/clinchem.2011.164640. Epub 2011 Jul 19. Clin Chem. 2011. PMID: 21771947

7

New Fabry disease mutation confirms cardiomyopathy aetiology: a case report.

Militaru S, Saftoiu A, Streubel B, Jurcut R. Militaru S, et al. Among authors: streubel b. Eur Heart J Case Rep. 2018 Nov 29;2(4):yty133. doi: 10.1093/ehjcr/yty133. eCollection 2018 Dec. Eur Heart J Case Rep. 2018. PMID: 31020209 Free PMC article.

8

Clinical-radiological, histological and genetic analyses in a lung transplant recipient with Mounier-Kuhn syndrome and end-stage chronic obstructive pulmonary disease.

Mitterbauer A, Hoetzenecker K, Birner P, Mildner M, Prosch H, Streubel B, Taghavi S, Klepetko W, Ankersmit HJ. Mitterbauer A, et al. Among authors: streubel b. Clin Respir J. 2015 Jul;9(3):375-9. doi: 10.1111/crj.12139. Epub 2014 May 21. Clin Respir J. 2015. PMID: 24725636

9

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: streubel b. 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

10

A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism.

Ertl DA, Stary S, Streubel B, Raimann A, Haeusler G. Ertl DA, et al. Among authors: streubel b. Bone. 2012 Sep;51(3):629-32. doi: 10.1016/j.bone.2012.06.009. Epub 2012 Jun 18. Bone. 2012. PMID: 22722080

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