Pyruvate Kinase Deficiency Latest Advances

Find the Latest Research About Pyruvate Kinase Deficiency

Last Updated: 06/30/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 491 publications

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

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

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: May 14, 2026

Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.

Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.

Journal: International journal of laboratory hematology
Published: February 16, 2026

Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.

Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.

Journal: Annals of hematology
Published: January 26, 2026

Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure.

Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure.

Journal: Children (Basel, Switzerland)
Published: October 06, 2025

Successful Matched Sibling Donor Transplant for Pyruvate Kinase Deficiency.

Successful Matched Sibling Donor Transplant for Pyruvate Kinase Deficiency.

Journal: Pediatric transplantation
Published: September 02, 2025

Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio.

Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio.

Journal: International journal of molecular sciences
Published: August 03, 2025

Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database.

Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population-Specific Database.

Journal: International journal of laboratory hematology
Published: July 17, 2025

Pyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice.

Pyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice.

Journal: JCI insight
Published: May 15, 2025

Exacerbation of Hereditary Pyruvate Kinase Deficiency Following a Vegetable Juicing Fad Diet: A Case of Asymptomatic Jaundice Due to Hemolytic Anemia.

Exacerbation of Hereditary Pyruvate Kinase Deficiency Following a Vegetable Juicing Fad Diet: A Case of Asymptomatic Jaundice Due to Hemolytic Anemia.

Journal: Cureus
Published: May 06, 2025

Pyruvate kinase deficiency links metabolic perturbations to neurodegeneration and axonal protection.

Pyruvate kinase deficiency links metabolic perturbations to neurodegeneration and axonal protection.

Journal: bioRxiv : the preprint server for biology
Published: April 16, 2025

Pyruvate kinase deficiency links metabolic perturbations to neurodegeneration and axonal protection.

Pyruvate kinase deficiency links metabolic perturbations to neurodegeneration and axonal protection.

Journal: Molecular metabolism
Published: April 04, 2025

Hemolysis and Acquired Pyruvate Kinase Deficiency in a Child With a Malignant Myeloid Disorder.

Hemolysis and Acquired Pyruvate Kinase Deficiency in a Child With a Malignant Myeloid Disorder.

Journal: American journal of hematology
Published: April 01, 2025
Showing 1-12 of 491

Last Updated: 06/30/2026