Novel <i>PKLR</i> missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia-Reference-Cited by-同舟云学术

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Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia

Published:2022-02 Issue:2 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Fawaz Naglaa¹²,Beshlawi Ismail²,Alqasim Alauldeen²^ORCID,Zachariah Mathew²,Russo Roberta³⁴,Andolfo Immacolata³⁴,Gambale Antonella³⁴,Pathare Anil²^ORCID,Iolascon Achille³⁴

Affiliation:

1. Department of Hematology College of Medicine and Health Sciences Sultan Qaboos University Muscat Oman

2. Department of Hematology Sultan Qaboos University Hospital Muscat Oman

3. Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università di Napoli Federico II Napoli Italy

4. CEINGE Biotecnologie Avanzate Napoli Italy

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.5315

Reference21 articles.

1. Pyruvate Kinase (PK) Deficiency Hereditary Nonspherocytic Hemolytic Anemia

2. Life-Span and Organ Sequestration of the Red Cells in Pyruvate Kinase Deficiency

3. Selective reticulocyte destruction in erythrocyte pyruvate kinase deficiency

4. Red cell pyruvate kinase deficiency: from genetics to clinical manifestations

5. Molecular heterogeneity of pyruvate kinase deficiency

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias;International Journal of Laboratory Hematology;2024-05-15

2. PYK-SubstitutionOME: an integrated database containing allosteric coupling, ligand affinity and mutational, structural, pathological, bioinformatic and computational information about pyruvate kinase isozymes;Database;2023-01-01

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