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Page 1
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Maas RR, et al. Among authors: horster f. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. Ann Neurol. 2017. PMID: 29205472 Free PMC article.
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
Speckmann C, Nennstiel U, Hönig M, Albert MH, Ghosh S, Schuetz C, Brockow I, Hörster F, Niehues T, Ehl S, Wahn V, Borte S, Lehmberg K, Baumann U, Beier R, Krüger R, Bakhtiar S, Kuehl JS, Klemann C, Kontny U, Holzer U, Meinhardt A, Morbach H, Naumann-Bartsch N, Rothoeft T, Kreins AY, Davies EG, Schneider DT, Bernuth HV, Klingebiel T, Hoffmann GF, Schulz A, Hauck F. Speckmann C, et al. Among authors: horster f. J Clin Immunol. 2023 Jul;43(5):965-978. doi: 10.1007/s10875-023-01450-6. Epub 2023 Feb 27. J Clin Immunol. 2023. PMID: 36843153 Free PMC article.
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.
Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Zwickler T, et al. Among authors: horster f. J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2. Epub 2008 May 27. J Inherit Metab Dis. 2008. PMID: 18563634
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Hörster F, et al. J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642010
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Wortmann SB, et al. Among authors: horster f. Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642805 Free article.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A. Kölker S, et al. Among authors: horster f. J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. J Inherit Metab Dis. 2015. PMID: 25875216
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M; Additional individual contributors from E-IMD. Molema F, et al. J Inherit Metab Dis. 2019 Nov;42(6):1162-1175. doi: 10.1002/jimd.12066. Epub 2019 Feb 27. J Inherit Metab Dis. 2019. PMID: 30734935 Free article.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M; Additional individual contributors from E-IMD. Molema F, et al. Mol Genet Metab. 2019 Apr;126(4):397-405. doi: 10.1016/j.ymgme.2019.02.003. Epub 2019 Feb 25. Mol Genet Metab. 2019. PMID: 30827756
156 results