Below are the most recent publications written about "Anemia, Hemolytic, Congenital Nonspherocytic" by people in Profiles.
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Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020 05; 95(5):472-482.
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Grace RF, Rose C, Layton DM, Galactéros F, Barcellini W, Morton DH, van Beers EJ, Yaish H, Ravindranath Y, Kuo KHM, Sheth S, Kwiatkowski JL, Barbier AJ, Bodie S, Silver B, Hua L, Kung C, Hawkins P, Jouvin MH, Bowden C, Glader B. Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency. N Engl J Med. 2019 09 05; 381(10):933-944.
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Grace RF, Mark Layton D, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019 03; 184(5):721-734.
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Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, Mañu-Pereira MDM, Kalfa TA, Pissard S, Segovia JC, van Beers E, Gallagher PG, Rees DC, van Wijk R. Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol. 2019 01; 94(1):149-161.
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Grace RF, Cohen J, Egan S, Wells T, Witherspoon B, Ryan A, Salek SS, Bodie S, Klaassen RJ. The burden of disease in pyruvate kinase deficiency: Patients' perception of the impact on health-related quality of life. Eur J Haematol. 2018 Dec; 101(6):758-765.
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Grace RF, Glader B. Red Blood Cell Enzyme Disorders. Pediatr Clin North Am. 2018 06; 65(3):579-595.
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Conway AJ, Brown FC, Hortle EJ, Burgio G, Foote SJ, Morton CJ, Jane SM, Curtis DJ. Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency. Dis Model Mech. 2018 05 21; 11(5).
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Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood. 2018 05 17; 131(20):2183-2192.
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Lesmana H, Dyer L, Li X, Denton J, Griffiths J, Chonat S, Seu KG, Heeney MM, Zhang K, Hopkin RJ, Kalfa TA. Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients. Hum Mutat. 2018 03; 39(3):389-393.
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Garcia-Gomez M, Calabria A, Garcia-Bravo M, Benedicenti F, Kosinski P, López-Manzaneda S, Hill C, Del Mar Mañu-Pereira M, Martín MA, Orman I, Vives-Corrons JL, Kung C, Schambach A, Jin S, Bueren JA, Montini E, Navarro S, Segovia JC. Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency. Mol Ther. 2016 08; 24(7):1187-98.