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Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W. Baumgartner-Sigl S, et al. Bone. 2007 Jun;40(6):1655-61. doi: 10.1016/j.bone.2007.01.020. Epub 2007 Feb 14. Bone. 2007. PMID: 17395561
Tolerability of inhaled N-chlorotaurine in the pig model.
Geiger R, Treml B, Pinna A, Barnickel L, Prossliner H, Reinstadler H, Pilch M, Hauer M, Walther C, Steiner HJ, Giese T, Wemhöner A, Scholl-Bürgi S, Gottardi W, Arnitz R, Sergi C, Nagl M, Löckinger A. Geiger R, et al. BMC Pulm Med. 2009 Jul 14;9:33. doi: 10.1186/1471-2466-9-33. BMC Pulm Med. 2009. PMID: 19602222 Free PMC article.
Tolerability of inhaled N-chlorotaurine in humans: a double-blind randomized phase I clinical study.
Arnitz R, Stein M, Bauer P, Lanthaler B, Jamnig H, Scholl-Bürgi S, Stempfl-Al-Jazrawi K, Ulmer H, Baumgartner B, Embacher S, Geisler S, Gostner JM, Müllinger B, Kälz B, Nagl M. Arnitz R, et al. Ther Adv Respir Dis. 2018 Jan-Dec;12:1753466618778955. doi: 10.1177/1753466618778955. Ther Adv Respir Dis. 2018. PMID: 29857780 Free PMC article. Clinical Trial.
Impact of the Fontan Operation on Organ Systems.
Michel M, Zlamy M, Entenmann A, Pichler K, Scholl-Bürgi S, Karall D, Geiger R, Salvador C, Niederwanger C, Ohuchi H. Michel M, et al. Cardiovasc Hematol Disord Drug Targets. 2019;19(3):205-214. doi: 10.2174/1871529X19666190211165124. Cardiovasc Hematol Disord Drug Targets. 2019. PMID: 30747084 Review.
Targeted metabolomic analysis of serum phospholipid and acylcarnitine in the adult Fontan patient with a dominant left ventricle.
Michel M, Dubowy KO, Zlamy M, Karall D, Adam MG, Entenmann A, Keller MA, Koch J, Odri Komazec I, Geiger R, Salvador C, Niederwanger C, Müller U, Scholl-Bürgi S, Laser KT. Michel M, et al. Ther Adv Chronic Dis. 2020 Apr 27;11:2040622320916031. doi: 10.1177/2040622320916031. eCollection 2020. Ther Adv Chronic Dis. 2020. PMID: 32426103 Free PMC article.
142 results