Diagnostic challenges in pyruvate kinase deficiency-Reference-Cited by-同舟云学术

Diagnostic challenges in pyruvate kinase deficiency

Published:2020-10-09 Issue:3 Volume:19 Page:90-94
ISSN:2414-9314
Container-title:Pediatric Hematology/Oncology and Immunopathology
language:
Short-container-title:Voprosy gematologii/onkologii i immunopatologii v pediatrii

Author:

Khadzhieva F. R.¹^ORCID,Mushanova S. N.¹^ORCID,Kekeeva T. N.¹^ORCID,Lavrentyeva I. N.¹^ORCID,Raykina E. V.²^ORCID

Affiliation:

1. Morozov Children’s City Clinical Hospital, Department of Health in Moscow

2. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of Russian Federation

Abstract

Red cell pyruvate kinase deficiency is a rare congenital, nonspherocytic hemolytic anemia caused by a glycolytic defect that is due to compound heterozygous or homozygous mutations in the PKLR gene on chromosome 1q21. The article presents analytical review of literature and the clinical case of pyruvate kinase deficiency. Patient's parents agreed to use personal dats and photos in research and publications.

Publisher

Fund Doctors, Innovations, Science for Children

Subject

Oncology,Hematology,Immunology,Immunology and Allergy,Pediatrics, Perinatology and Child Health

Reference15 articles.

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