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FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
Badura-Stronka M, Śmigiel R, Rutkowska K, Szymańska K, Hirschfeld AS, Monkiewicz M, Kosińska J, Wolańska E, Rydzanicz M, Latos-Bieleńska A, Płoski R. Badura-Stronka M, et al. Among authors: hirschfeld as. Mol Genet Genomic Med. 2022 Apr;10(4):e1899. doi: 10.1002/mgg3.1899. Epub 2022 Mar 7. Mol Genet Genomic Med. 2022. PMID: 35255187 Free PMC article.
Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.
Winczewska-Wiktor A, Hirschfeld AS, Badura-Stronka M, Wojsyk-Banaszak I, Sobkowiak P, Bartkowska-Śniatkowska A, Babak V, Steinborn B. Winczewska-Wiktor A, et al. Among authors: hirschfeld as. Int J Environ Res Public Health. 2022 Jan 11;19(2):775. doi: 10.3390/ijerph19020775. Int J Environ Res Public Health. 2022. PMID: 35055596 Free PMC article.
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
Badura-Stronka M, Winczewska-Wiktor A, Pietrzak A, Hirschfeld AS, Zemojtel T, Wołyńska K, Bednarek-Rajewska K, Seget-Dubaniewicz M, Matheisel A, Latos-Bielenska A, Steinborn B. Badura-Stronka M, et al. Among authors: hirschfeld as. Genes (Basel). 2021 Jun 23;12(7):956. doi: 10.3390/genes12070956. Genes (Basel). 2021. PMID: 34201538 Free PMC article.