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Siblings with severe pyruvate kinase deficiency and a complex genotype

Published:2016-06-29 Issue:9 Volume:170 Page:2449-2452
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Christensen Robert D.¹²,Yaish Hassan M.¹,Nussenzveig Roberto H.³,Agarwal Archana M.³⁴

Affiliation:

1. Division of Hematology/Oncology; Department of Pediatrics; University of Utah School of Medicine; Salt Lake City Utah

2. Women and Newborns Clinical Program; Intermountain Healthcare; Salt Lake City Utah

3. ARUP Laboratories; Salt Lake City Utah

4. Department of Pathology; University of Utah School of Medicine; Salt Lake City Utah

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Six children with pyruvate kinase deficiency from one small town: Molecular characterization of the PK-LR gene;Christensen;J Pediatr,2011

2. Causes of hemolysis in neonates with extreme hyperbilirubinemia;Christensen;J Perinatol,2014

3. Measuring end-tidal carbon monoxide of jaundiced neonates in the birth hospital to identify those with hemolysis;Christensen;Neonatology,2016

4. Erythrocyte pyruvate kinase deficiency: 2015 status report;Grace;Am J Hematol,2015

Cited by 7 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. Neonatal Anemia;Principles of Neonatology;2024

2. Non-spherocytic hemolytic anemia caused by erythrocyte pyruvate kinase defiiency: the analysis of genetic defects in pediatric patients, living in Russian Federation;Pediatric Hematology/Oncology and Immunopathology;2021-05-22

3. Pyruvate kinase deficiency: epidemiology, molecular analyses and modern diagnostic approaches (literature review);Russian Journal of Pediatric Hematology and Oncology;2020-07-04

4. Molecular heterogeneity of pyruvate kinase deficiency;Haematologica;2020-06-05

5. Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency;American Journal of Hematology;2020-03-06

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