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FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.
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.
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Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients.
Winczewska-Wiktor A, Hirschfeld AS, Badura-Stronka M, Komasińska-Piotrowska P, Steinborn B.
Winczewska-Wiktor A, et al. Among authors: hirschfeld as.
J Clin Med. 2022 Jan 25;11(3):606. doi: 10.3390/jcm11030606.
J Clin Med. 2022.
PMID: 35160058
Free PMC article.
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First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.
Badura-Stronka M, Hirschfeld AS, Winczewska-Wiktor A, Budzyńska E, Jakubiuk-Tomaszuk A, Piontek A, Steinborn B, Kozubski W.
Badura-Stronka M, et al. Among authors: hirschfeld as.
Clin Genet. 2022 Feb;101(2):190-207. doi: 10.1111/cge.14079. Epub 2021 Nov 24.
Clin Genet. 2022.
PMID: 34689324
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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.
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