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Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E. Ciara E, et al. Among authors: dudzinska m. Mol Genet Metab Rep. 2016 Apr 18;7:70-6. doi: 10.1016/j.ymgmr.2016.03.004. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27144126 Free PMC article.
Pediatric-onset multiple sclerosis in Poland: A registry-based retrospective cohort study.
Brola W, Steinborn B, Niewada M, Mazurkiewicz-Bełdzińska M, Jóźwiak S, Sobolewski P, Żak M, Wilski M, Bilska M, Siedlarska M, Puzio-Bochen I, Wencel-Warot A, Lemka M, Kroczka S, Czyżyk E, Bocheńska M, Emich-Widera E, Pietruszewski J, Boćkowski L, Kapica-Topczewska K, Chorąży M, Kułakowska A, Ujma-Czapska B, Przysło Ł, Połatyńska K, Dudzińska M, Mitosek-Szewczyk K, Melnyk A, Knap M, Kotulska K. Brola W, et al. Among authors: dudzinska m. Mult Scler Relat Disord. 2022 Jan;57:103344. doi: 10.1016/j.msard.2021.103344. Epub 2021 Oct 25. Mult Scler Relat Disord. 2022. PMID: 35158453
Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy.
Kotulska K, Chmielewski D, Mazurkiewicz-Bełdzińska M, Tomaszek K, Pierzchlewicz K, Rabczenko D, Przysło Ł, Biedroń A, Czyżyk E, Steinborn B, Pietruszewski J, Boćkowski L, Cichosz D, Dudzińska M, Gadowska E, Młynarczyk E, Jasiński M, Masztalerz A, Kempisty A, Kostera-Pruszczyk A. Kotulska K, et al. Among authors: dudzinska m. Eur J Paediatr Neurol. 2022 Jul;39:103-109. doi: 10.1016/j.ejpn.2022.06.001. Epub 2022 Jun 5. Eur J Paediatr Neurol. 2022. PMID: 35738181
Ketogenic diet guidelines for infants with refractory epilepsy.
van der Louw E, van den Hurk D, Neal E, Leiendecker B, Fitzsimmon G, Dority L, Thompson L, Marchió M, Dudzińska M, Dressler A, Klepper J, Auvin S, Cross JH. van der Louw E, et al. Among authors: dudzinska m. Eur J Paediatr Neurol. 2016 Nov;20(6):798-809. doi: 10.1016/j.ejpn.2016.07.009. Epub 2016 Jul 17. Eur J Paediatr Neurol. 2016. PMID: 27470655 Free article. Review.
The Clinical and Epidemiological Profile of Paediatric-Onset Multiple Sclerosis in Poland.
Brola W, Steinborn B, Żak M, Mazurkiewicz-Bełdzińska M, Jóźwiak S, Sobolewski P, Wilski M, Bilska M, Siedlarska M, Puzio-Bochen I, Wencel-Warot A, Lemka M, Kroczka S, Czyżyk E, Bocheńska M, Emich-Widera E, Pietruszewski J, Boćkowski L, Kapica-Topczewska K, Czarnowska A, Kułakowska A, Ujma-Czapska B, Gruna-Ożarowska A, Przysło Ł, Połatyńska K, Dudzińska M, Mitosek-Szewczyk K, Melnyk A, Adamczyk-Sowa M, Kotulska K. Brola W, et al. Among authors: dudzinska m. J Clin Med. 2022 Dec 17;11(24):7494. doi: 10.3390/jcm11247494. J Clin Med. 2022. PMID: 36556109 Free PMC article.
31 results