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Elżbieta Moszczyńska1, Katarzyna Pasternak-Pietrzak2, Aleksandra Tutka1

  • 1Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland.

Endokrynologia Polska
|December 4, 2025
PubMed
概括

这项研究强调了早期干预在治疗罕见遗传疾病方面的关键作用. 及时诊断和量身定制的治疗计划显著改善了患者的结果和生活质量.