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Page 1
Mutation analysis in 54 propionic acidemia patients.
Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, 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, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO. Kraus JP, et al. Among authors: haase c. J Inherit Metab Dis. 2012 Jan;35(1):51-63. doi: 10.1007/s10545-011-9399-0. Epub 2011 Oct 27. J Inherit Metab Dis. 2012. PMID: 22033733
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. Among authors: haase c. 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
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
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. Among authors: haase c. Orphanet J Rare Dis. 2013 Jan 10;8:6. doi: 10.1186/1750-1172-8-6. Orphanet J Rare Dis. 2013. PMID: 23305374 Free PMC article.
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. Among authors: haase c. J Inherit Metab Dis. 2009 Aug;32(4):488-97. doi: 10.1007/s10545-009-1125-9. Epub 2009 Apr 29. J Inherit Metab Dis. 2009. PMID: 19399638
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. Among authors: haase c. J Inherit Metab Dis. 2009 Aug;32(4):498-505. doi: 10.1007/s10545-009-1126-8. Epub 2009 Apr 28. J Inherit Metab Dis. 2009. PMID: 19452263
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, Marquardt I, Das AM, Freisinger P, Grünert SC, Krämer J, Baumgartner MR, Beblo S, Haase C, Dieckmann A, Lindner M, Näke A, Hoffmann GF, Mühlhausen C, Walter M, Garbade SF, Maier EM, Kölker S, Boy N. Märtner EMC, et al. Among authors: haase c. Sci Rep. 2021 Sep 29;11(1):19300. doi: 10.1038/s41598-021-98809-9. Sci Rep. 2021. PMID: 34588557 Free PMC article.
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, Marquardt I, Das AM, Freisinger P, Grünert SC, Krämer J, Baumgartner MR, Beblo S, Haase C, Dieckmann A, Lindner M, Näke A, Hoffmann GF, Mühlhausen C, Walter M, Garbade SF, Maier EM, Kölker S, Boy N. Märtner EMC, et al. Among authors: haase c. Sci Rep. 2021 Oct 12;11(1):20618. doi: 10.1038/s41598-021-00137-5. Sci Rep. 2021. PMID: 34642359 Free PMC article. No abstract available.
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A, Praetorius S, Karabul N, Dießel J, Schmidt D, Motz R, Haase C, Baethmann M, Hennermann JB, Smitka M, Santer R, Muschol N, Meyer A, Marquardt T, Huemer M, Thiels C, Rohrbach M, Seyfullah G, Mengel E. Hahn A, et al. Among authors: haase c. JIMD Rep. 2015;20:65-75. doi: 10.1007/8904_2014_392. Epub 2015 Jan 28. JIMD Rep. 2015. PMID: 25626711 Free PMC article.
331 results