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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M. Neřoldová M, et al. Among authors: knisely as. PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023. PLoS One. 2023. PMID: 37471416 Free PMC article.
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.
Kohlmaier B, Skok K, Lackner C, Haselrieder G, Müller T, Sailer S, Zschocke J, Keller MA, Knisely AS, Janecke AR. Kohlmaier B, et al. Among authors: knisely as. Int J Obes (Lond). 2024 Dec;48(12):1818-1821. doi: 10.1038/s41366-024-01634-z. Epub 2024 Sep 14. Int J Obes (Lond). 2024. PMID: 39277655 Free PMC article.
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Vogel GF, Podpeskar A, Rieder D, Salzer H, Garczarczyk-Asim D, Wang L, Abuduxikuer K, Wang JS, Scharrer A, Faqeih EA, Aseeri AT, Vodopiutz J, Heilos A, Pichler J, Huber WD, Müller T, Knisely AS, Janecke AR. Vogel GF, et al. Among authors: knisely as. Clin Genet. 2024 Sep;106(3):224-233. doi: 10.1111/cge.14524. Epub 2024 Mar 29. Clin Genet. 2024. PMID: 38553872
Langerhans Cell Histiocytosis or Acute Cellular Rejection?
Entenmann A, Kogler H, Huber WD, Kölz M, Knisely AS, Skok K. Entenmann A, et al. Among authors: knisely as. Pediatr Transplant. 2024 Dec;28(8):e14884. doi: 10.1111/petr.14884. Pediatr Transplant. 2024. PMID: 39497510
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
Pietrobattista A, Spada M, Candusso M, Boenzi S, Dionisi-Vici C, Francalanci P, Morrone A, Ferri L, Indolfi G, Agolini E, Giordano G, Monti L, Maggiore G, Knisely AS. Pietrobattista A, et al. Among authors: knisely as. Pediatr Transplant. 2022 Sep;26(6):e14318. doi: 10.1111/petr.14318. Epub 2022 May 28. Pediatr Transplant. 2022. PMID: 35633129
198 results