在新生儿照明疗法后出现的球状病变
Marina Moura Toscano1, Flavia Fernandes Cintra1, Ludmila Oliveira Resende2
1Department of Pediatrics, Instituto da Criança e do Adolescente, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
Einstein (Sao Paulo, Brazil)
|May 31, 2023
概括
遗传性罕见性疾病 - - kongenital erythropoietic porphyria - - 在新生儿中引起严重的状病变,光疗加剧了这种病变. 通过氨酸检测和遗传分析进行早期诊断,导致了通过避免光线的有效管理.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 皮肤病学 皮肤病学
背景情况:
- 先天性红色素质 (CEP) 是一种罕见的血红素合成遗传性疾病.
- CEP通常在婴儿期表现为光敏感性和溶血性贫血.
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