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Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Among authors: lipinski p. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.
Long-term outcome of patients with alpha-mannosidosis - A single center study.
Lipiński P, Różdżyńska-Świątkowska A, Iwanicka-Pronicka K, Perkowska B, Pokora P, Tylki-Szymańska A. Lipiński P, et al. Mol Genet Metab Rep. 2021 Dec 9;30:100826. doi: 10.1016/j.ymgmr.2021.100826. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 35242565 Free PMC article.
Progressive macrophage accumulation in lysosomal acid lipase deficiency.
Lipiński P, Cielecka-Kuszyk J, Bożkiewicz-Kasperczyk A, Perkowska B, Jurkiewicz E, Tylki-Szymańska A. Lipiński P, et al. Mol Genet Metab Rep. 2020 May 1;23:100594. doi: 10.1016/j.ymgmr.2020.100594. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32382506 Free PMC article.
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
Lipiński P, Greczan M, Piekutowska-Abramczuk D, Jurkiewicz E, Bakuła A, Socha P, Jankowska I, Rokicki D, Tylki-Szymańska A. Lipiński P, et al. Metab Brain Dis. 2021 Oct;36(7):2169-2172. doi: 10.1007/s11011-021-00827-z. Epub 2021 Aug 24. Metab Brain Dis. 2021. PMID: 34427841 Free PMC article.
183 results