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Article

First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family.

Hematology (Amsterdam, Netherlands) - 1 Nov 2011

So Chi-Chiu, Tang Mary, Li Chak-Ho, Ha Shau-Yin, Pissard Serge, Chan Li-Chong

Abstract excerpt

We describe the first case of prenatal diagnosis for pyruvate kinase (PK) deficiency in Chinese and emphasize that this disease is an important differential diagnosis in pediatric patients with non-spherocytic hemolytic anemia. A Han Chinese child with a history of severe transfusion-dependent he...

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Source

Identifiers

PMID: 22183074
DOI: 10.1179/102453311X13127324303317

Genes

PKLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22183074-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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