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Page 1
Did you mean sabine scholl buergi[Author] (13 results)?
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: scholl burgi s. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Among authors: scholl burgi s. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: scholl burgi s. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Forny P, et al. Among authors: scholl burgi s. J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 9. J Inherit Metab Dis. 2021. PMID: 33595124 Free PMC article.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S. Boy N, et al. Among authors: scholl burgi s. J Inherit Metab Dis. 2023 May;46(3):482-519. doi: 10.1002/jimd.12566. Epub 2022 Nov 17. J Inherit Metab Dis. 2023. PMID: 36221165 Free article.
[Taking Stock: Figures, Data, Facts].
Karall D, Scholl-Bürgi S. Karall D, et al. Among authors: scholl burgi s. Padiatr Padol. 2020;55(4):160-161. doi: 10.1007/s00608-020-00826-w. Epub 2020 Sep 15. Padiatr Padol. 2020. PMID: 32952218 Free PMC article. German. No abstract available.
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. Among authors: scholl burgi s. Cardiovasc Hematol Disord Drug Targets. 2019;19(3):205-214. doi: 10.2174/1871529X19666190211165124. Cardiovasc Hematol Disord Drug Targets. 2019. PMID: 30747084 Review.
Abdominal Pain and Constipation.
Härter B, Scholl-Bürgi S. Härter B, et al. Among authors: scholl burgi s. Gastroenterology. 2019 Feb;156(3):e12-e13. doi: 10.1053/j.gastro.2018.09.033. Epub 2018 Sep 18. Gastroenterology. 2019. PMID: 30240668 No abstract available.
Subdural Hygroma in an Infant with Marfan's Syndrome.
Ballmann L, Scholl-Bürgi S, Karall T, Odri Komazec I, Karall D, Michel M. Ballmann L, et al. Among authors: scholl burgi s. Neuropediatrics. 2021 Dec;52(6):423-430. doi: 10.1055/s-0041-1731801. Epub 2021 Jul 7. Neuropediatrics. 2021. PMID: 34233372 Review.
108 results