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Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld EJ, Rees DC, Chonat S, Kuo KHM, Rothman JA, Barcellini W, van Beers EJ, Pospíšilová D, Shah AJ, van Wijk R, Glader B, Mañú Pereira MDM, Andres O, Kalfa TA, Eber SW, Gallagher PG, Kwiatkowski JL, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace RF. Al-Samkari H, et al. Among authors: pospisilova d. Lancet Haematol. 2024 Mar;11(3):e228-e239. doi: 10.1016/S2352-3026(23)00377-0. Epub 2024 Feb 5. Lancet Haematol. 2024. PMID: 38330977 Review.
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design.
Grace RF, van Beers EJ, Vives Corrons JL, Glader B, Glenthøj A, Kanno H, Kuo KHM, Lander C, Layton DM, Pospíŝilová D, Viprakasit V, Li J, Yan Y, Boscoe AN, Bowden C, Bianchi P. Grace RF, et al. Among authors: pospisilova d. BMJ Open. 2023 Mar 23;13(3):e063605. doi: 10.1136/bmjopen-2022-063605. BMJ Open. 2023. PMID: 36958777 Free PMC article.
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel. Wlodarski MW, et al. Among authors: pospisilova d. Lancet Haematol. 2024 May;11(5):e368-e382. doi: 10.1016/S2352-3026(24)00063-2. Lancet Haematol. 2024. PMID: 38697731 Review.
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Sochorcova L, Hlusickova Kapralova K, Fialova Kucerova J, Pospisilova D, Prochazkova D, Jahoda O, Kurekova S, Kralova B, Divoka M, Navratilova J, Manakova J, Kriegova E, Indrak K, Faber E, Divoky V, Horvathova M. Sochorcova L, et al. Among authors: pospisilova d. Br J Haematol. 2023 Aug;202(3):674-685. doi: 10.1111/bjh.18891. Epub 2023 May 28. Br J Haematol. 2023. PMID: 37246471
Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.
Kubickova A, Maceckova Z, Vojta P, Ondra M, Volejnikova J, Koralkova P, Jungova A, Jahoda O, Mojzikova R, Hadacova I, Cermak J, Horvathova M, Pospisilova D, Hajduch M. Kubickova A, et al. Among authors: pospisilova d. Blood Cells Mol Dis. 2022 Nov;97:102690. doi: 10.1016/j.bcmd.2022.102690. Epub 2022 Jul 6. Blood Cells Mol Dis. 2022. PMID: 35871033
The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.
Lonetti A, Indio V, Dianzani I, Ramenghi U, Da Costa L, Pospíšilová D, Migliaccio AR. Lonetti A, et al. Among authors: pospisilova d. Front Physiol. 2021 Oct 13;12:745032. doi: 10.3389/fphys.2021.745032. eCollection 2021. Front Physiol. 2021. PMID: 34721069 Free PMC article.
108 results