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Page 1
Lomitapide for the treatment of paediatric patients with homozygous familial hypercholesterolaemia (APH-19): results from the efficacy phase of an open-label, multicentre, phase 3 study.
Masana L, Zambon A, Schmitt CP, Taylan C, Driemeyer J, Cohen H, Buonuomo PS, Alashwal A, Al-Dubayee M, Kholaif N, Diaz-Diaz JL, Maatouk F, Martinez-Hervas S, Mangal B, Löwe S, Cunningham T. Masana L, et al. Among authors: driemeyer j. Lancet Diabetes Endocrinol. 2024 Dec;12(12):880-889. doi: 10.1016/S2213-8587(24)00233-X. Epub 2024 Oct 16. Lancet Diabetes Endocrinol. 2024. PMID: 39426393 Clinical Trial.
Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry.
Luirink IK, Hutten BA, Greber-Platzer S, Kolovou GD, Dann EJ, de Ferranti SD, Taylan C, Bruckert E, Saheb S, Oh J, Driemeyer J, Farnier M, Pape L, Schmitt CP, Novoa FJ, Maeser M, Masana L, Shahrani A, Wiegman A, Groothoff JW. Luirink IK, et al. Among authors: driemeyer j. Atherosclerosis. 2020 Apr;299:24-31. doi: 10.1016/j.atherosclerosis.2020.01.031. Epub 2020 Feb 18. Atherosclerosis. 2020. PMID: 32199148
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity.
Klaus G, Taylan C, Büscher R, Schmitt CP, Pape L, Oh J, Driemeyer J, Galiano M, König J, Schürfeld C, Spitthöver R, Schaefer JR, Weber LT, Heibges A, Klingel R. Klaus G, et al. Among authors: driemeyer j. Pediatr Nephrol. 2018 Jul;33(7):1199-1208. doi: 10.1007/s00467-018-3906-6. Epub 2018 Mar 3. Pediatr Nephrol. 2018. PMID: 29502162
Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis.
Taylan C, Driemeyer J, Schmitt CP, Pape L, Büscher R, Galiano M, König J, Schürfeld C, Spitthöver R, Versen A, Koziolek M, Marsen TA, Stein H, Schaefer JR, Heibges A, Klingel R, Oh J, Weber LT, Klaus G. Taylan C, et al. Among authors: driemeyer j. Am J Cardiol. 2020 Dec 1;136:38-48. doi: 10.1016/j.amjcard.2020.09.015. Epub 2020 Sep 16. Am J Cardiol. 2020. PMID: 32946862
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE Study Group. Pechmann A, et al. J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600. J Neuromuscul Dis. 2023. PMID: 36565133 Free PMC article.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492. JAMA Pediatr. 2024. PMID: 38587854 Clinical Trial.
22 results