Scholl-Bürgi S - Search Results

1

Propionic acidemia: neonatal versus selective metabolic screening.

Grünert SC, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Grünert SC, et al. J Inherit Metab Dis. 2012 Jan;35(1):41-9. doi: 10.1007/s10545-011-9419-0. Epub 2011 Dec 2. J Inherit Metab Dis. 2012. PMID: 22134541

2

Long-term outcome of renal glucosuria type 0: the original patient and his natural history.

Scholl-Bürgi S, Santer R, Ehrich JH. Scholl-Bürgi S, et al. Nephrol Dial Transplant. 2004 Sep;19(9):2394-6. doi: 10.1093/ndt/gfh366. Nephrol Dial Transplant. 2004. PMID: 15299100 No abstract available.

3

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.

Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D. Baumgartner D, et al. J Pediatr. 2007 Feb;150(2):192-7, 197.e1. doi: 10.1016/j.jpeds.2006.11.043. J Pediatr. 2007. PMID: 17236900

4

The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'.

Scholl-Bürgi S, Korman SH, Applegarth DA, Karall D, Lillquist Y, Heinz-Erian P, Davidson AG, Haberlandt E, Sass JO. Scholl-Bürgi S, et al. J Inherit Metab Dis. 2008 Jun;31(3):395-8. doi: 10.1007/s10545-008-0796-y. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392751

5

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.

Scholl-Bürgi S, Sigl SB, Häberle J, Haberlandt E, Rostásy K, Ertl C, Eichinger-Öttl U, Heinz-Erian P, Karall D. Scholl-Bürgi S, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S323-8. doi: 10.1007/s10545-008-0903-0. Epub 2008 Dec 6. J Inherit Metab Dis. 2008. PMID: 19052914

6

Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.

Scholl-Bürgi S, Sass JO, Heinz-Erian P, Amann E, Haberlandt E, Albrecht U, Ertl C, Sigl SB, Lagler F, Rostasy K, Karall D. Scholl-Bürgi S, et al. Amino Acids. 2010 May;38(5):1473-81. doi: 10.1007/s00726-009-0356-2. Epub 2009 Oct 1. Amino Acids. 2010. PMID: 19795187

7

Management of phenylketonuria in Europe: survey results from 19 countries.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826

8

Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation.

Scholl-Bürgi S, Haberlandt E, Gotwald T, Albrecht U, Baumgartner Sigl S, Rauchenzauner M, Rostásy K, Karall D. Scholl-Bürgi S, et al. Neuropediatrics. 2009 Apr;40(2):76-81. doi: 10.1055/s-0029-1231065. Epub 2009 Oct 6. Neuropediatrics. 2009. PMID: 19809936

9

Epilepsy in patients with propionic acidemia.

Haberlandt E, Canestrini C, Brunner-Krainz M, Möslinger D, Mussner K, Plecko B, Scholl-Bürgi S, Sperl W, Rostásy K, Karall D. Haberlandt E, et al. Neuropediatrics. 2009 Jun;40(3):120-5. doi: 10.1055/s-0029-1243167. Epub 2009 Dec 17. Neuropediatrics. 2009. PMID: 20020396

10

D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).

Sass JO, Fischer K, Wang R, Christensen E, Scholl-Bürgi S, Chang R, Kapelari K, Walter M. Sass JO, et al. Hum Mutat. 2010 Dec;31(12):1280-5. doi: 10.1002/humu.21375. Epub 2010 Nov 9. Hum Mutat. 2010. PMID: 20949620

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