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104 results

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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: to figueras j. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
Congenital erythropoietic porphyria.
To-Figueras J, Erwin AL, Aguilera P, Millet O, Desnick RJ. To-Figueras J, et al. Liver Int. 2024 May 8. doi: 10.1111/liv.15958. Online ahead of print. Liver Int. 2024. PMID: 38717058 Review.
Biosynthesis of heme and the porphyrias.
To-Figueras J. To-Figueras J. Med Clin (Barc). 2023 Sep;159 Suppl 1:S1-S7. doi: 10.1016/j.medcli.2023.04.037. Epub 2023 Oct 10. Med Clin (Barc). 2023. PMID: 37827890 English, Spanish. No abstract available.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: to figueras j. bioRxiv [Preprint]. 2023 Feb 6:2023.02.06.527353. doi: 10.1101/2023.02.06.527353. bioRxiv. 2023. PMID: 36798224 Free PMC article. Updated. Preprint.
Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.
Serra-García L, Morgado-Carrasco D, Pérez-Valencia AI, Castaño-Díez S, Alamon-Reig F, Badenas C, To-Figueras J, Aguilera P. Serra-García L, et al. Among authors: to figueras j. Photodermatol Photoimmunol Photomed. 2022 Jan;38(1):86-91. doi: 10.1111/phpp.12720. Epub 2021 Aug 3. Photodermatol Photoimmunol Photomed. 2022. PMID: 34319628 Review. No abstract available.
104 results