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282 related items for PubMed ID: 24601847

  • 1. A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.
    Li H, Gu P, Yao RE, Wang J, Fu Q, Wang J.
    Fetal Pediatr Pathol; 2014 Jun; 33(3):182-90. PubMed ID: 24601847
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  • 5. Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.
    Montllor L, Mañú-Pereira MD, Llaudet-Planas E, Gómez Ramírez P, Sevilla Navarro J, Vives-Corrons JL.
    Med Clin (Barc); 2017 Jan 06; 148(1):23-27. PubMed ID: 27871768
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  • 6. [Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].
    Li D, Zhang J, Jiao B, Liu Y, Wang Y, Wang Z, Li W, Hou L, Sun Y, Guo H, Guo X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb 06; 33(1):53-6. PubMed ID: 26829734
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  • 7. [A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing].
    Li DL, Zhang J, Liu YL, Jiao BQ, Wang ZW, Wang YJ, Li WJ, Hou LF, Guo HM, Sun Y, Guo X.
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2015 Oct 06; 23(5):1464-8. PubMed ID: 26524058
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  • 8. Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.
    Lesmana H, Dyer L, Li X, Denton J, Griffiths J, Chonat S, Seu KG, Heeney MM, Zhang K, Hopkin RJ, Kalfa TA.
    Hum Mutat; 2018 Mar 06; 39(3):389-393. PubMed ID: 29288557
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  • 9. Red blood cell PK deficiency: An update of PK-LR gene mutation database.
    Canu G, De Bonis M, Minucci A, Capoluongo E.
    Blood Cells Mol Dis; 2016 Mar 06; 57():100-9. PubMed ID: 26832193
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  • 10. 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 06; 61(8):1463-5. PubMed ID: 24481986
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  • 11. Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.
    Kager L, Minkov M, Zeitlhofer P, Fahrner B, Ratzinger F, Boztug K, Dossenbach-Glaninger A, Haas OA.
    Pediatr Blood Cancer; 2016 May 06; 63(5):914-6. PubMed ID: 26728349
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  • 12. Hemolytic anemia associated with a novel heterozygote mutation 1183A in the PK-LR gene (PK- Jordan).
    Karadsheh NS, Gelbart T, Naffa RG.
    Int J Lab Hematol; 2014 Aug 06; 36(4):e66-8. PubMed ID: 24330591
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  • 13. Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency.
    Bagla S, Bhambhani K, Gadgeel M, Buck S, Jin JP, Ravindranath Y.
    Haematologica; 2019 Sep 06; 104(9):e428-e431. PubMed ID: 30948487
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  • 14. 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 06; 39(2):223-231. PubMed ID: 28133914
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  • 15. Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.
    Kugler W, Willaschek C, Holtz C, Ohlenbusch A, Laspe P, Krügener R, Muirhead H, Schröter W, Lakomek M.
    Hum Mutat; 2000 Apr 06; 15(3):261-72. PubMed ID: 10679942
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  • 16. Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis.
    van Zwieten R, van Oirschot BA, Veldthuis M, Dobbe JG, Streekstra GJ, van Solinge WW, Schutgens RE, van Wijk R.
    Am J Hematol; 2015 Mar 06; 90(3):E35-9. PubMed ID: 25388786
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  • 17. Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
    Milanesio B, Pepe C, Defelipe LA, Eandi Eberle S, Avalos Gomez V, Chaves A, Albero A, Aguirre F, Fernandez D, Aizpurua L, Paula Dieuzeide M, Turjanski A, Bianchi P, Fermo E, Feliu-Torres A.
    Clin Biochem; 2021 May 06; 91():26-30. PubMed ID: 33631127
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  • 18. 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
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  • 19. Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn.
    Canu G, De Paolis E, Righino B, Mazzuccato G, De Paolis G, Capoluongo E, De Rosa MC, Urbani A, Gunes AM, Minucci A.
    Mol Biol Rep; 2020 Oct 01; 47(10):8311-8315. PubMed ID: 32974842
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  • 20. Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
    Warang P, Kedar P, Ghosh K, Colah R.
    Blood Cells Mol Dis; 2013 Oct 01; 51(3):133-7. PubMed ID: 23770304
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