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Article

Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China.

Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2023

Jia Chenlu, Zhao Dehua, Li Yanru, Gao Yanbo, Zhang Xiaoli, Li Xiaole, Lv Shubo, Li Runqing, Zhu Xinyun, Liu Suna

Abstract excerpt

BACKGROUND: Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. Recent availability in treatment for DMD raised the need of early screening in our center, but newborn screening (NBS) for DMD has not been carried out in Henan Province. OBJECTIVES: To determine an optimal cutoff value through the quantitative determination of the creatine kinase isoform MM (CK-MM)...

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Source

Identifiers

PMID: 36516925
DOI: 10.1016/j.cca.2022.11.024

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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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