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Page 1
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.
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.
Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.
Aguiar A, Ahring K, Almeida MF, Assoun M, Belanger Quintana A, Bigot S, Bihet G, Blom Malmberg K, Burlina A, Bushueva T, Caris A, Chan H, Clark A, Clark S, Cochrane B, Corthouts K, Dalmau J, Dassy M, De Meyer A, Didycz B, Diels M, Dokupil K, Dubois S, Eftring K, Ekengren J, Ellerton C, Evans S, Faria A, Fischer A, Ford S, Freisinger P, Giżewska M, Gokmen-Ozel H, Gribben J, Gunden F, Heddrich-Ellerbrok M, Heiber S, Heidenborg C, Jankowski C, Janssen-Regelink R, Jones I, Jonkers C, Joerg-Streller M, Kaalund-Hansen K, Kiss E, Lammardo AM, Lang K, Lier D, Lilje R, Lowry S, Luyten K, MacDonald A, Meyer U, Moor D, Pal A, Robert M, Robertson L, Rocha JC, Rohde C, Ross K, Saruhan S, Sjöqvist E, Skeath R, Stoelen L, Ter Horst NM, Terry A, Timmer C, Tuncer N, Vande Kerckhove K, van der Ploeg L, van Rijn M, van Spronsen FJ, van Teeffelen-Heithoff A, van Wegberg A, van Wyk K, Vasconcelos C, Vitoria I, Wildgoose J, Webster D, White FJ, Zweers H. Aguiar A, et al. Among authors: freisinger p. Mol Genet Metab. 2015 May;115(1):17-22. doi: 10.1016/j.ymgme.2015.03.006. Epub 2015 Mar 26. Mol Genet Metab. 2015. PMID: 25862610
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Repp BM, et al. Among authors: freisinger p. Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. Orphanet J Rare Dis. 2018. PMID: 30025539 Free PMC article.
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation.
Cannet C, Pilotto A, Rocha JC, Schäfer H, Spraul M, Berg D, Nawroth P, Kasperk C, Gramer G, Haas D, Piel D, Kölker S, Hoffmann G, Freisinger P, Trefz F. Cannet C, et al. Among authors: freisinger p. Orphanet J Rare Dis. 2020 Feb 27;15(1):61. doi: 10.1186/s13023-020-1329-5. Orphanet J Rare Dis. 2020. PMID: 32106880 Free PMC article.
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
Phenylalanine Effects on Brain Function in Adult Phenylketonuria.
Pilotto A, Zipser CM, Leks E, Haas D, Gramer G, Freisinger P, Schaeffer E, Liepelt-Scarfone I, Brockmann K, Maetzler W, Schulte C, Deuschle C, Hauser AK, Hoffmann GF, Scheffler K, van Spronsen FJ, Padovani A, Trefz F, Berg D. Pilotto A, et al. Among authors: freisinger p. Neurology. 2021 Jan 19;96(3):e399-e411. doi: 10.1212/WNL.0000000000011088. Epub 2020 Oct 22. Neurology. 2021. PMID: 33093221
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial.
Muntau AC, Burlina A, Eyskens F, Freisinger P, Leuzzi V, Sivri HS, Gramer G, Pazdírková R, Cleary M, Lotz-Havla AS, Lane P, Alvarez I, Rutsch F. Muntau AC, et al. Among authors: freisinger p. Orphanet J Rare Dis. 2021 Aug 3;16(1):341. doi: 10.1186/s13023-021-01968-1. Orphanet J Rare Dis. 2021. PMID: 34344399 Free PMC article. Clinical Trial.
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
133 results