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Article

ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.

European journal of pediatrics - 1 Feb 2023

Huang Dishu, Song Xiaojie, Ma Jiannan, Li Xiujuan, Guo Yi, Li Mei, Luo Hanyu, Fang Zhixu, Yang Chen, Xie Lingling, Jiang Li

Abstract excerpt

The aim of this research is to study the phenotype, genotype, treatment strategies, and short-term prognosis of Chinese children with ATP1A3 (Na+/K+-ATPase alpha 3 gene)-related disorders in Southwest China. Patients with pathogenic ATP1A3 variants identified using next-generation sequencing were registered at the Children's Hospital of Chongqing Medical University from December 2015 to May 2019. We followed them...

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Identifiers

PMID: 36484864
DOI: 10.1007/s00431-022-04744-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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