Works matching Sideroblastic anemia

Results: 417
    1

    The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-95590-x
    By:
    • Jové-Solavera, Daniel;
    • Rámila, Marta;
    • Ferrer-Cortés, Xènia;
    • Olivella, Mireia;
    • Venturi, Veronica;
    • Morado, Marta;
    • Hernández-Rodríguez, Ines;
    • Khan, Aneal;
    • Pérez-Montero, Santiago;
    • Tornador, Cristian;
    • Germing, Ulrich;
    • Gattermann, Norbert;
    • Sanchez, Mayka
    Publication type:
    Article
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    Recurrent sideroblastic anemia during pregnancy.

    Published in:
    2023
    By:
    • Mohamed, Shehab;
    • Ibrahim, Firyal;
    • Alasafar, Mohamad Najib;
    • Alshurafa, Awni;
    • Akiki, Susanna;
    • Soliman, Dina;
    • Kohla, Samah;
    • Amer, Aliaa;
    • Qasim, Hana;
    • Cherif, Honar
    Publication type:
    Case Study
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    Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort.

    Published in:
    British Journal of Haematology, 2019, v. 187, n. 4, p. 530, doi. 10.1111/bjh.16100
    By:
    • Fouquet, Cyrielle;
    • Le Rouzic, Marie‐Amelyne;
    • Leblanc, Thierry;
    • Fouyssac, Fanny;
    • Leverger, Guy;
    • Hessissen, Laila;
    • Marlin, Sandrine;
    • Bourrat, Emmanuelle;
    • Fahd, Mony;
    • Raffoux, Emmanuel;
    • Vannier, Jean‐Pierre;
    • Jäkel, Nadja;
    • Knoefler, Ralf;
    • Triolo, Valerie;
    • Pasquet, Marlene;
    • Bayart, Sophie;
    • Thuret, Isabelle;
    • Lutz, Patrick;
    • Vermylen, Christiane;
    • Touati, Mohamed
    Publication type:
    Article