# Urgent need for newborn targeted sequencing screening technology in Shandong Province, China

**Authors:** Jia-Lin Mu, Meng Sun, Yu-Lin Li, Pan-Pan Li, Hui Zou

PMC · DOI: 10.1007/s12519-025-00907-5 · World Journal of Pediatrics · 2025-04-29

## Full-text entities

- **Diseases:** IMDs (MESH:D030342), genetic metabolic disease (MESH:D008659), inherited metabolic defects (MESH:D008661), Hyperphenylalaninemia (MESH:D010661), amino acid and organic acid metabolism disorders (MESH:D000592), MMA (MESH:C537358), CH (MESH:D003409), disorders of organic acid metabolism (MESH:D019965), carnitine deficiency (MESH:C536778), CAH (MESH:D000312), urea cycle disorders (MESH:D056806), birth defects (MESH:D000014), inborn metabolic disorders (MESH:D020739), glucose-6-phosphate dehydrogenase (G6PD) deficiency (MESH:D005955)
- **Chemicals:** phenylalanine (MESH:D010649)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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Source: https://tomesphere.com/paper/PMC12167713