Related Experiment Video

Updated: May 15, 2026

Assessment of Mitochondrial Functions and Cell Viability in Renal Cells Overexpressing Protein Kinase C Isozymes
15:43

Assessment of Mitochondrial Functions and Cell Viability in Renal Cells Overexpressing Protein Kinase C Isozymes

Published on: January 7, 2013

[Clinical analysis of six patients with pyruvate kinase deficiency caused by PKLR variants]

Wen Wang1, Yan-Xia Zhao1, Ling-Zhen Wang1

  • 1Department of Pediatric Hematology and Oncology, Affiliated Hospital of Qingdao University, Qingdao, Shandong 266000, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|May 14, 2026
PubMed

Insights

Pyruvate kinase deficiency (PKD) presents with chronic hemolysis and varied severity. Genetic testing aids diagnosis, but treatment is supportive, with splenectomy potentially improving quality of life for some patients.

Area of Science:

  • Genetics
  • Hematology
  • Pediatrics
Abstract

Keywords:
Clinical featurePKLR gene variantPyruvate kinase deficiencySplenectomy

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