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Long COVID-19 Liver Manifestation in Children.
Cooper S, Tobar A, Konen O, Orenstein N, Kropach Gilad N, Landau YE, Mozer-Glassberg Y, Bar-Lev MR, Shaoul R, Shamir R, Waisbourd-Zinman O. Cooper S, et al. Among authors: landau ye. J Pediatr Gastroenterol Nutr. 2022 Sep 1;75(3):244-251. doi: 10.1097/MPG.0000000000003521. Epub 2022 Aug 9. J Pediatr Gastroenterol Nutr. 2022. PMID: 35687535
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
Kristal E, Pode-Shakked B, Hazan G, Banne E, Ling G, David O, Shany E, Raas-Rothschild A, Anikster Y, Kneller K, Hershkovitz E, Landau YE, Spiegel R, Zehavi Y, Staretz-Chacham O. Kristal E, et al. Among authors: landau ye. Orphanet J Rare Dis. 2021 Sep 8;16(1):379. doi: 10.1186/s13023-021-02007-9. Orphanet J Rare Dis. 2021. PMID: 34496908 Free PMC article.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: landau ye. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.
Steinberg-Shemer O, Yacobovich J, Noy-Lotan S, Dgany O, Krasnov T, Barg A, Landau YE, Kneller K, Somech R, Gilad O, Brik Simon D, Orenstein N, Izraeli S, Del Caño-Ochoa F, Tamary H, Ramón-Maiques S. Steinberg-Shemer O, et al. Among authors: landau ye. Br J Haematol. 2024 Mar;204(3):1067-1071. doi: 10.1111/bjh.19215. Epub 2023 Nov 20. Br J Haematol. 2024. PMID: 37984840
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, Lifton RP, Anikster Y, Hildebrandt F. Vivante A, et al. Among authors: landau ye. Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5. Pediatr Nephrol. 2017. PMID: 28779239 Free PMC article.
44 results