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Article

A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.

Fetal and pediatric pathology - 1 Jun 2014

Li Huimin, Gu Ping, Yao Ru-en, Wang Jian, Fu Qihua, Wang Jing

Abstract excerpt

BACKGROUND: Pyruvate kinase deficiency (PKD) is one of the most common enzymatic defects in humans and it is an autosomal recessive disorder causing chronic nonspherocytic hemolytic anemia. METHODS: A two-year-old male baby with severe hemolytic anemia and low level of pyruvate kinase (PK) activity was enrolled in this study. All exons of PKLR gene and their flanking sequences were amplified from the patient's...

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Source

Identifiers

PMID: 24601847
DOI: 10.3109/15513815.2014.890260

Genes

PKLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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