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Page 1
Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.
Johnson S, Grace RF, Despotovic JM. Johnson S, et al. Pediatr Blood Cancer. 2022 Aug;69(8):e29696. doi: 10.1002/pbc.29696. Epub 2022 Apr 22. Pediatr Blood Cancer. 2022. PMID: 35452178 Review.
The treatment of PK deficiency has made strides over the last few years with newer disease-modifying therapies being developed and studied, with the potential to change the course of disease in childhood and beyond....
The treatment of PK deficiency has made strides over the last few years with newer disease-modifying therapies being developed and studied, …
Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.
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. Grace RF, et al. N Engl J Med. 2019 Sep 5;381(10):933-944. doi: 10.1056/NEJMoa1902678. N Engl J Med. 2019. PMID: 31483964 Clinical Trial.
Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.
Mehrabi Sisakht J, Mehri M, Najmabadi H, Azarkeivan A, Neishabury M. Mehrabi Sisakht J, et al. Arch Iran Med. 2022 Oct 1;25(10):691-697. doi: 10.34172/aim.2022.108. Arch Iran Med. 2022. PMID: 37542401 Free PMC article.
RESULTS: We identified five variants in the PKLR gene, including a novel unpublished frameshift in these families. These variants were predicted as pathogenic according to the ACMG guidelines by Intervar and/or Varsome prediction tools. ...
RESULTS: We identified five variants in the PKLR gene, including a novel unpublished frameshift in these families. These variants were pr …
Itavastatin and resveratrol increase triosephosphate isomerase protein in a newly identified variant of TPI deficiency.
VanDemark AP, Hrizo SL, Eicher SL, Kowalski J, Myers TD, Pfeifer MR, Riley KN, Koeberl DD, Palladino MJ. VanDemark AP, et al. Dis Model Mech. 2022 May 1;15(5):dmm049261. doi: 10.1242/dmm.049261. Epub 2022 May 17. Dis Model Mech. 2022. PMID: 35315486 Free PMC article.
These data suggest that impaired stability, and not catalytic activity, is a better predictor of TPI Df severity. Lastly, we tested two recently discovered chemical modulators of mutant TPI stability, itavastatin and resveratrol, and observed a significant increase in TPI …
These data suggest that impaired stability, and not catalytic activity, is a better predictor of TPI Df severity. Lastly, we tested t …
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. Grace RF, et al. Blood. 2018 May 17;131(20):2183-2192. doi: 10.1182/blood-2017-10-810796. Epub 2018 Mar 16. Blood. 2018. PMID: 29549173 Free article.
Splenectomy (150 [59%] of 254 patients) was associated with a median increase in hemoglobin of 1.6 g/dL and a decreased transfusion burden in 90% of patients. Predictors of a response to splenectomy included higher presplenectomy hemoglobin (P = .007), lower indirect bilir …
Splenectomy (150 [59%] of 254 patients) was associated with a median increase in hemoglobin of 1.6 g/dL and a decreased transfusion burden i …
Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi.
Tanphaichitr VS, Hirono A, Pung-amritt P, Treesucon A, Wanachiwanawin W. Tanphaichitr VS, et al. Ann Hematol. 2011 Jul;90(7):769-75. doi: 10.1007/s00277-010-1153-4. Epub 2011 Feb 8. Ann Hematol. 2011. PMID: 21302115
Molecular analysis revealed a novel missense mutation 825 GC predicting 275 LysAsn causing G6PD Bangkok. In the second family, two male siblings are affected. ...Molecular analysis revealed combined missense mutations in exons 12 and 13. The first mutation was 1376 GT p …
Molecular analysis revealed a novel missense mutation 825 GC predicting 275 LysAsn causing G6PD Bangkok. In the second family, two ma …
Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.
Valentini G, Chiarelli LR, Fortin R, Dolzan M, Galizzi A, Abraham DJ, Wang C, Bianchi P, Zanella A, Mattevi A. Valentini G, et al. J Biol Chem. 2002 Jun 28;277(26):23807-14. doi: 10.1074/jbc.M202107200. Epub 2002 Apr 17. J Biol Chem. 2002. PMID: 11960989 Free article.
Some mutant proteins exhibit moderate changes in the kinetic parameters, which are sufficient to cause mild to severe anemia, underlining the crucial role of RPK for erythrocyte metabolism. Prediction of the effects of mutations is difficult because there is no relation be …
Some mutant proteins exhibit moderate changes in the kinetic parameters, which are sufficient to cause mild to severe anemia, underlining th …
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. BMJ Open. 2023 Mar 23;13(3):e063605. doi: 10.1136/bmjopen-2022-063605. BMJ Open. 2023. PMID: 36958777 Free PMC article.
Due to its rarity and clinical heterogeneity, information on the natural history and long-term clinical course of PK deficiency is limited, presenting major challenges to patient management, the development of new therapies and establishing disease-specific treatment recom …
Due to its rarity and clinical heterogeneity, information on the natural history and long-term clinical course of PK deficiency is li …
Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report.
Maisonneuve E, Sohier Lepine M, Maurice P, Pissard S, Lafon B, Mailloux A, Dhombres F, Leverger G, Jouannic JM. Maisonneuve E, et al. Transfusion. 2023 Jan;63(1):257-262. doi: 10.1111/trf.17177. Epub 2022 Nov 8. Transfusion. 2023. PMID: 36349479
A hematopoietic stem cell allograft was discussed prenatally but not chosen, as it would not have significantly changed the perinatal prognosis. The patient delivered a 2730 g girl at 37 weeks, with hemoglobin of 13.6 g/dl. ...
A hematopoietic stem cell allograft was discussed prenatally but not chosen, as it would not have significantly changed the perinatal pro …
45 results