BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

255 related articles for article (PubMed ID: 27871768)

  • 21. Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
    Dongerdiye R; Bokde M; More TA; Saptarshi A; Devendra R; Chiddarwar A; Warang P; Kedar P
    Ann Hematol; 2023 May; 102(5):1029-1036. PubMed ID: 36892591
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis.
    Vives Corrons JL; Krishnevskaya E; Montllor L; Leguizamon V; Garcia Bernal M
    Cells; 2022 Mar; 11(7):. PubMed ID: 35406697
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Improving the laboratory diagnosis of pyruvate kinase deficiency.
    Laas C; Lambert C; Senior McKenzie T; Sheldon E; Davidson P; Rees D; Clark B
    Br J Haematol; 2021 Jun; 193(5):994-1000. PubMed ID: 33937978
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia.
    Vercellati C; Marcello AP; Fermo E; Barcellini W; Zanella A; Bianchi P
    Clin Lab; 2013; 59(3-4):421-4. PubMed ID: 23724634
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.
    Yozgat AK; Erdem AY; Kaçar D; Özbek NY; Yaralı N
    Turk J Pediatr; 2022; 64(5):951-955. PubMed ID: 36305449
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency.
    Chueh HW; Kim N
    Pediatr Hematol Oncol; 2022 Mar; 39(2):166-173. PubMed ID: 34281465
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.
    Shefer Averbuch N; Steinberg-Shemer O; Dgany O; Krasnov T; Noy-Lotan S; Yacobovich J; Kuperman AA; Kattamis A; Ben Barak A; Roth-Jelinek B; Chubar E; Shabad E; Dufort G; Ellis M; Wolach O; Pazgal I; Abu Quider A; Miskin H; Tamary H
    Eur J Haematol; 2018 Sep; 101(3):297-304. PubMed ID: 29786897
    [TBL] [Abstract][Full Text] [Related]  

  • 28. PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.
    Maciak K; Jurkiewicz A; Strojny W; Adamowicz-Salach A; Romiszewska M; Jackowska T; Kwiecinska K; Poznanski J; Gora M; Burzynska B
    Blood Cells Mol Dis; 2024 Jul; 107():102841. PubMed ID: 38581917
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
    Garate Z; Quintana-Bustamante O; Crane AM; Olivier E; Poirot L; Galetto R; Kosinski P; Hill C; Kung C; Agirre X; Orman I; Cerrato L; Alberquilla O; Rodriguez-Fornes F; Fusaki N; Garcia-Sanchez F; Maia TM; Ribeiro ML; Sevilla J; Prosper F; Jin S; Mountford J; Guenechea G; Gouble A; Bueren JA; Davis BR; Segovia JC
    Stem Cell Reports; 2015 Dec; 5(6):1053-1066. PubMed ID: 26549847
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 63(5):914-6. PubMed ID: 26728349
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The variable manifestations of disease in pyruvate kinase deficiency and their management.
    Al-Samkari H; Van Beers EJ; Kuo KHM; Barcellini W; Bianchi P; Glenthøj A; Del Mar Mañú Pereira M; Van Wijk R; Glader B; Grace RF
    Haematologica; 2020 Sep; 105(9):2229-2239. PubMed ID: 33054048
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.
    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
    Mol Ther; 2016 Aug; 24(7):1187-98. PubMed ID: 27138040
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Consensus document for the diagnosis and treatment of pyruvate kinase deficiency.
    Morado M; Villegas AM; de la Iglesia S; Martínez-Nieto J; Del Orbe Barreto R; Beneitez D; Salido E;
    Med Clin (Barc); 2021 Sep; 157(5):253.e1-253.e8. PubMed ID: 33431182
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.
    Rehman AU; Rashid A; Hussain Z; Shah K
    J Med Case Rep; 2022 Feb; 16(1):66. PubMed ID: 35168679
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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; 57():100-9. PubMed ID: 26832193
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular heterogeneity of pyruvate kinase deficiency.
    Bianchi P; Fermo E
    Haematologica; 2020 Sep; 105(9):2218-2228. PubMed ID: 33054047
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
    Mañú-Pereira Mdel M; Gonzalez-Roca E; van Solinge WW; Llaudet-Planas E; Sevilla J; Montllor L; Mensa-Vilaro A; Ploos van Amstel HK; van Wijk R; Vives-Corrons J
    Am J Hematol; 2015 Dec; 90(12):E217-9. PubMed ID: 26315463
    [No Abstract]   [Full Text] [Related]  

  • 40. 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; 90(3):E35-9. PubMed ID: 25388786
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.