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131 results

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Page 1
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM. Mayorandan S, et al. Among authors: freisinger p. Orphanet J Rare Dis. 2014 Aug 1;9:107. doi: 10.1186/s13023-014-0107-7. Orphanet J Rare Dis. 2014. PMID: 25081276 Free PMC article.
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J. Honzík T, et al. Among authors: freisinger p. Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. Arch Dis Child. 2010. PMID: 20335238 Free article.
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Staufner C, Lindner M, Dionisi-Vici C, Freisinger P, Dobbelaere D, Douillard C, Makhseed N, Straub BK, Kahrizi K, Ballhausen D, la Marca G, Kölker S, Haas D, Hoffmann GF, Grünert SC, Blom HJ. Staufner C, et al. Among authors: freisinger p. J Inherit Metab Dis. 2016 Mar;39(2):273-83. doi: 10.1007/s10545-015-9904-y. Epub 2015 Dec 7. J Inherit Metab Dis. 2016. PMID: 26642971
Impact of age at onset and newborn screening on outcome in organic acidurias.
Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium. Heringer J, et al. Among authors: freisinger p. J Inherit Metab Dis. 2016 May;39(3):341-353. doi: 10.1007/s10545-015-9907-8. Epub 2015 Dec 21. J Inherit Metab Dis. 2016. PMID: 26689403
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
Muntau AC, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri HS, Vijay S, Bal MO, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Munafo A, Mould DR, Moreau-Stucker F, Rogoff D. Muntau AC, et al. Among authors: freisinger p. Orphanet J Rare Dis. 2017 Mar 9;12(1):47. doi: 10.1186/s13023-017-0600-x. Orphanet J Rare Dis. 2017. PMID: 28274234 Free PMC article. Clinical Trial.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S. Boy N, et al. Among authors: freisinger p. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.
Mütze U, Garbade SF, Gramer G, Lindner M, Freisinger P, Grünert SC, Hennermann J, Ensenauer R, Thimm E, Zirnbauer J, Leichsenring M, Gleich F, Hörster F, Grohmann-Held K, Boy N, Fang-Hoffmann J, Burgard P, Walter M, Hoffmann GF, Kölker S. Mütze U, et al. Among authors: freisinger p. Pediatrics. 2020 Nov;146(5):e20200444. doi: 10.1542/peds.2020-0444. Epub 2020 Oct 13. Pediatrics. 2020. PMID: 33051224
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
Märtner EMC, Maier EM, Mengler K, Thimm E, Schiergens KA, Marquardt T, Santer R, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer-Seifert J, Lenz D, Hoffmann GF, Mühlhausen C, Ensenauer R, Garbade SF, Kölker S, Boy N. Märtner EMC, et al. Among authors: freisinger p. J Inherit Metab Dis. 2021 May;44(3):629-638. doi: 10.1002/jimd.12335. Epub 2020 Dec 15. J Inherit Metab Dis. 2021. PMID: 33274439 Free article.
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.
Bärhold F, Meyer U, Neugebauer AK, Thimm EM, Lier D, Rosenbaum-Fabian S, Och U, Fekete A, Möslinger D, Rohde C, Beblo S, Hochuli M, Bogovic N, Korpel V, Dahl SV, Mayorandan S, Fischer A, Freisinger P, Dokoupil K, Heddrich-Ellerbrok M, Jörg-Streller M, van Teeffelen-Heithoff A, Lahl J, Das AM. Bärhold F, et al. Among authors: freisinger p. Nutrients. 2020 Dec 31;13(1):134. doi: 10.3390/nu13010134. Nutrients. 2020. PMID: 33396520 Free PMC article.
131 results