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通过新生儿查发现的晚发佩病的教训:系统性审查

Myriam Boueri1, Jessica Doxey1, Tracy Boggs2

  • 1Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, United States.

Molecular genetics and metabolism
|February 20, 2026
PubMed
概括

对晚发佩病 (LOPD) 的新生儿查 (NBS) 揭示了早期的表型和不同的临床表现. 早期酶替代疗法 (ERT) 可能有利于通过NBS识别的选择婴儿,突出需要长期跟踪和明确的治疗指南.

关键词:
晚期发病的庞贝病 晚期发病的庞贝病新生儿查 新生儿查系统性审查 系统性审查台湾 台湾 台湾 台湾美国 美国 美国 美国

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