PMC Articles for MedGen (Select 473069) - PMC

Links from MedGen

Items: 1 to 20 of 123

<< First< Prev

Page of 7

Select item 73448681.

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

Paola Bianchi, Elisa Fermo, Bertil Glader, Hitoshi Kanno, Archana Agarwal, Wilma Barcellini, Stefan Eber, James D. Hoyer, David J. Kuter, Tabita Magalhães Maia, Maria del Mar Mañu-Pereira, Theodosia A. Kalfa, Serge Pissard, José-Carlos Segovia, Eduard van Beers, Patrick G. Gallagher, David C. Rees, Richard van Wijk, with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases

Am J Hematol. Author manuscript; available in PMC 2020 Jul 9.

Published in final edited form as: Am J Hematol. 2019 Jan; 94(1): 149–161. Published online 2018 Nov 28. doi: 10.1002/ajh.25325

PMCID:: PMC7344868

Article PDF–861K

Select item 109855422.

Pyruvate kinase activators for treatment of pyruvate kinase deficiency

Rachael F. Grace

Hematology Am Soc Hematol Educ Program. 2023 Dec 8; 2023(1): 97-106. Published online 2023 Dec 8. doi: 10.1182/hematology.2023000466

PMCID:: PMC10985542

Article PDF–699K

Select item 109042473.

Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis

Yang Wang, Jiaqi Liu, Tao Liu, Xizhou An, Lan Huang, Jiacheng Li, Yongjie Zhang, Yan Xiang, Li Xiao, Weijia Yi, Jiebin Qin, Lili Liu, Cuilan Wang, Jie Yu

Heliyon. 2024 Mar 15; 10(5): e26368. Published online 2024 Feb 16. doi: 10.1016/j.heliyon.2024.e26368

PMCID:: PMC10904247

Article PDF–8.3M

Select item 106858724.

Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing

Jafar Mehrabi Sisakht, Maghsood Mehri, Hossein Najmabadi, Azita Azarkeivan, Maryam Neishabury

Arch Iran Med. 2022 Oct; 25(10): 691–697. Published online 2022 Oct 1. doi: 10.34172/aim.2022.108

PMCID:: PMC10685872

Article PDF–417K

Select item 106555185.

Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency

Fei Xie, Lu Gan, Lei Lei, Tengguang Cai, Yu Gao, Xiaoying Liu, Bin Cai, Lin Zhou

Mol Genet Genomic Med. 2023 Nov; 11(11): e2239. Published online 2023 Jul 19. doi: 10.1002/mgg3.2239

PMCID:: PMC10655518

Article PDF–3.6M

Select item 106360006.

Psychometric validation of the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Deficiency Impact Assessment in adults in the phase 3 ACTIVATE trial

David A. Andrae, Rachael F. Grace, Adrian Jewett, Brandon Foster, Robert J. Klaassen, Sam Salek, Junlong Li, Feng Tai, Audra N. Boscoe, Erin Zagadailov

J Patient Rep Outcomes. 2023 Dec; 7: 112. Published online 2023 Nov 9. doi: 10.1186/s41687-023-00650-3

PMCID:: PMC10636000

Article PDF–1.1M

Select item 105398107.

Pyruvate kinase deficiency mutant gene carriage in stray cats and rescued cats from animal hoarding in Hokkaido, Japan

Hiroshi UENO, Tomohito ITOH, Toyohiko NASUNO, Wataru KONNO, Atsushi KONDO, Ikuo KONISHI, Hisao INUKAI, Daiki KOKUBO, Mitsuhiro ISAKA, Md Shafiqul ISLAM, Osamu YAMATO

J Vet Med Sci. 2023 Sep; 85(9): 972–976. Published online 2023 Jul 27. doi: 10.1292/jvms.23-0091

PMCID:: PMC10539810

Article PDF–958K

Select item 104793458.

Acute-on-Chronic Liver Failure and Successful Liver Transplantation in Pyruvate Kinase Deficiency

Baila Elkin, Daniela S. Allende, Shreya Sengupta

ACG Case Rep J. 2023 Sep; 10(9): e01143. Published online 2023 Sep 5. doi: 10.14309/crj.0000000000001143

PMCID:: PMC10479345

Article PDF–644K

Select item 104759909.

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation

Huan Wu, Long Wu, Quan Zhang, Bao-fang Zhang

Front Genet. 2023; 14: 1229271. Published online 2023 Aug 21. doi: 10.3389/fgene.2023.1229271

PMCID:: PMC10475990

Article PDF–1.1M

Select item 1018541310.

Pyruvate Kinase Deficiency Causing Priapism

Vinay Hanyalu Shankar, Bharadwaj Adithya-Sateesh, Nicole Gousy, Girma Ayele, Freyr Petursson, Rediet Atalay, Miriam Michael

Case Rep Hematol. 2023; 2023: 6503311. Published online 2023 May 8. doi: 10.1155/2023/6503311

PMCID:: PMC10185413

Article PDF–191K

Select item 1017580911.

Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

Sara Fañanas-Baquero, Matías Morín, Sergio Fernández, Isabel Ojeda-Perez, Mercedes Dessy-Rodriguez, Miruna Giurgiu, Juan A. Bueren, Miguel Angel Moreno-Pelayo, Jose Carlos Segovia, Oscar Quintana-Bustamante

Front Genome Ed. 2023; 5: 1104666. Published online 2023 Apr 28. doi: 10.3389/fgeed.2023.1104666

PMCID:: PMC10175809

Article PDF–1.9M

Select item 1004003312.

The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design

Rachael F Grace, Eduard J van Beers, Joan-Lluis Vives Corrons, Bertil Glader, Andreas Glenthøj, Hitoshi Kanno, Kevin H M Kuo, Carl Lander, D Mark Layton, Dagmar Pospíŝilová, Vip Viprakasit, Junlong Li, Yan Yan, Audra N Boscoe, Chris Bowden, Paola Bianchi

BMJ Open. 2023; 13(3): e063605. Published online 2023 Mar 23. doi: 10.1136/bmjopen-2022-063605

PMCID:: PMC10040033

Article PDF–483K

Select item 1002053213.

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency

Anna Zaninoni, Roberta Marra, Elisa Fermo, Dario Consonni, Immacolata Andolfo, Anna Paola Marcello, Barbara Eleni Rosato, Cristina Vercellati, Wilma Barcellini, Achille Iolascon, Paola Bianchi, Roberta Russo

Sci Rep. 2023; 13: 4395. Published online 2023 Mar 16. doi: 10.1038/s41598-023-31571-2

PMCID:: PMC10020532

Article PDF–1.1M

Select item 986684214.

2,3-Diphosphoglycerate and the Protective Effect of Pyruvate Kinase Deficiency against Malaria Infection—Exploring the Role of the Red Blood Cell Membrane

Maria Carvalho, Márcia M. Medeiros, Inês Morais, Catarina S. Lopes, Ana Balau, Nuno C. Santos, Filomena A. Carvalho, Ana Paula Arez

Int J Mol Sci. 2023 Jan; 24(2): 1336. Published online 2023 Jan 10. doi: 10.3390/ijms24021336

PMCID:: PMC9866842

Article PDF–4.0M

Select item 975214315.

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency

Minsun Kim, Seung Yeob Lee, Namsu Kim, Jaehyeon Lee, Dal Sik Kim, Joonhong Park, Yong Gon Cho

Front Pediatr. 2022; 10: 1022980. Published online 2022 Dec 1. doi: 10.3389/fped.2022.1022980

PMCID:: PMC9752143

Article PDF–1.8M

Select item 944414316.

Pyruvate Kinase Deficiency: Current Challenges and Future Prospects

Bruno Fattizzo, Francesca Cavallaro, Anna Paola Maria Luisa Marcello, Cristina Vercellati, Wilma Barcellini

J Blood Med. 2022; 13: 461–471. Published online 2022 Sep 1. doi: 10.2147/JBM.S353907

PMCID:: PMC9444143

Article PDF–2.8M

Select item 908654017.

Novel Compound Heterozygous PKLR Mutation Induced Pyruvate Kinase Deficiency With Persistent Pulmonary Hypertension in a Neonate: A Case Report

Sha Lin, Xintian Hua, Jinrong Li, Yifei Li

Front Cardiovasc Med. 2022; 9: 872172. Published online 2022 Apr 26. doi: 10.3389/fcvm.2022.872172

PMCID:: PMC9086540

Article PDF–3.3M

Select item 899771818.

Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis

Joan-Lluis Vives Corrons, Elena Krishnevskaya, Laura Montllor, Valentina Leguizamon, Marta Garcia Bernal

Cells. 2022 Apr; 11(7): 1133. Published online 2022 Mar 28. doi: 10.3390/cells11071133

PMCID:: PMC8997718

Article PDF–936K

Select item 894145819.

Hanny Al-Samkari, Eduard J. van Beers, D. Holmes Morton, Stefan W. Eber, Satheesh Chonat, Kevin H. M. Kuo, Nina Kollmar, Heng Wang, Vicky R. Breakey, Sujit Sheth, Mukta Sharma, Peter W. Forbes, Robert J. Klaassen, Rachael F. Grace

Blood Adv. 2022 Mar 22; 6(6): 1844–1853. Published online 2022 Mar 16. doi: 10.1182/bloodadvances.2021004675

PMCID:: PMC8941458

Article PDF–1.1M

Select item 884896220.

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report

Atta Ur Rehman, Abdur Rashid, Zubair Hussain, Khadim Shah

J Med Case Rep. 2022; 16: 66. Published online 2022 Feb 16. doi: 10.1186/s13256-022-03292-z

PMCID:: PMC8848962

Article PDF–1.3M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 123

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity