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2017 4
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Page 1
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Distelmaier F, Sezer A, Helm C, Waldmüller S, Seibt A, Gangfuß A, Kölbel H, Schara-Schmidt U, Yuksel D, Talim B, Mayatepek E, Nikolin S, Weis J, Roos A, Haack TB. Distelmaier F, et al. Among authors: kolbel h. Brain. 2024 Apr 18:awae099. doi: 10.1093/brain/awae099. Online ahead of print. Brain. 2024. PMID: 38637313 No abstract available.
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. Among authors: kolbel h. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
PEDIATRIC COMMUNITY-ACQUIRED BRAIN ABSCESSES: A Single-center Retrospective Study.
Lu KH, Bruns N, Pentek C, Della Marina A, Gangfuß A, Kölbel H, Dogan B, Dziobaka J, Ahmadipour Y, Damman P, Felderhoff-Müser U, Dohna-Schwake C, Goretzki SC. Lu KH, et al. Among authors: kolbel h. Pediatr Infect Dis J. 2024 Mar 5. doi: 10.1097/INF.0000000000004308. Online ahead of print. Pediatr Infect Dis J. 2024. PMID: 38451881
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A, Rating P, Ferreira T, Hentschel A, Marina AD, Kölbel H, Sickmann A, Abicht A, Kraft F, Ruck T, Böhm J, Schänzer A, Schara-Schmidt U, Neuhann TM, Horvath R, Roos A. Gangfuß A, et al. Among authors: kolbel h. J Neuromuscul Dis. 2024;11(2):485-491. doi: 10.3233/JND-230181. J Neuromuscul Dis. 2024. PMID: 38217609 Free PMC article.
High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy.
Johannsen J, Weiss D, Driemeyer J, Olfe J, Stute F, Müller F, Schütt M, Trollmann R, Kölbel H, Schara-Schmidt U, Kirschner J, Pechmann A, Blaschek A, Horber V, Denecke J. Johannsen J, et al. Among authors: kolbel h. Front Pediatr. 2023 Nov 16;11:1259293. doi: 10.3389/fped.2023.1259293. eCollection 2023. Front Pediatr. 2023. PMID: 38034835 Free PMC article.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnytė B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsőfi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioğlu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloğlu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petković Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H. Lenz D, et al. Among authors: kolbel h. Hepatology. 2024 May 1;79(5):1075-1087. doi: 10.1097/HEP.0000000000000684. Epub 2023 Nov 16. Hepatology. 2024. PMID: 37976411 Free PMC article.
59 results