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Journal Abstract Search
237 related items for PubMed ID: 32463523
1. The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency. Al-Samkari H, Addonizio K, Glader B, Morton DH, Chonat S, Thompson AA, Kuo KHM, Ravindranath Y, Wang H, Rothman JA, Kwiatkowski JL, Kung C, Kosinski PA, Al-Sayegh H, London WB, Grace RF. Br J Haematol; 2021 Mar; 192(6):1092-1096. PubMed ID: 32463523 [Abstract] [Full Text] [Related]
2. Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants. Gök V, Leblebisatan G, Gürlek Gökçebay D, Güler S, Doğan ME, Tuğ Bozdoğan S, Koca Yozgat A, Özcan A, Pekpak Şahinoğlu E, Tokgöz H, Çil M, Özemri Sağ Ş, Yilmaz E, Şaşmaz Hİ, Evim MS, Akbayram S, Karadoğan M, Mutlu FT, Boğa İ, Yeter Doğan B, Yarali N, Çalişkan Ü, Bişgin A, Temel ŞG, Proven M, Gibson K, Demir BŞ, Saraçoğlu H, Eken A, Karakükçü Ç, Karakükçü M, Güneş AM, Özbek NY, Kilinç Y, Patiroğlu T, Özdemir MA, Roy NBA, Ünal E. Br J Haematol; 2024 Jul; 205(1):236-242. PubMed ID: 38811201 [Abstract] [Full Text] [Related]
3. Residual pyruvate kinase activity in PKLR-deficient erythroid precursors of a patient suffering from severe haemolytic anaemia. Klei TRL, Kheradmand Kia S, Veldthuis M, Beuger BM, Geissler J, Dehbozorgian J, Karimi M, van Bruggen R, van Zwieten R. Eur J Haematol; 2017 Jun; 98(6):584-589. PubMed ID: 28295642 [Abstract] [Full Text] [Related]
4. Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios. Mojzikova R, Koralkova P, Holub D, Zidova Z, Pospisilova D, Cermak J, Striezencova Laluhova Z, Indrak K, Sukova M, Partschova M, Kucerova J, Horvathova M, Divoky V. Br J Haematol; 2014 May; 165(4):556-63. PubMed ID: 24533562 [Abstract] [Full Text] [Related]
5. Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease. Manco L, Vagace JM, Relvas L, Rebelo U, Bento C, Villegas A, Letícia Ribeiro M. Eur J Haematol; 2010 Jan 01; 84(1):89-90. PubMed ID: 19758413 [No Abstract] [Full Text] [Related]
13. Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene. Jaouani M, Manco L, Kalai M, Chaouch L, Douzi K, Silva A, Macedo S, Darragi I, Boudriga I, Chaouachi D, Fitouri Z, Van Wijk R, Ribeiro ML, Abbes S. Int J Lab Hematol; 2017 Apr 01; 39(2):223-231. PubMed ID: 28133914 [Abstract] [Full Text] [Related]
14. Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney. Haija MA, Qian YW, Muthukumar A. Pediatr Blood Cancer; 2014 Aug 01; 61(8):1463-5. PubMed ID: 24481986 [Abstract] [Full Text] [Related]
15. Cord blood transplantation in a young child with pyruvate kinase deficiency. Akiyoshi K, Sekiguchi K, Okamoto T, Suenobu S, Izumi T. Pediatr Int; 2016 Jul 01; 58(7):634-6. PubMed ID: 27460399 [Abstract] [Full Text] [Related]
16. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. 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. Blood; 2018 May 17; 131(20):2183-2192. PubMed ID: 29549173 [Abstract] [Full Text] [Related]