2021 甲基丙二酸血症和丙酸血症的诊断和管理指南(第1版)

2021-05-09 国外遗传代谢性疾病专家组(统称) J Inherit Metab Dis

孤立性甲基丙二酸血症(MMA)和丙酸血症(PA)是罕见的遗传代谢性疾病。本文由多学科专家小组共同制定,主要针对MMA和PA的诊断以及管理提供指导建议。

中文标题:

2021 甲基丙二酸血症和丙酸血症的诊断和管理指南(第1版)

英文标题:

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

发布日期:

2021-05-09

简要介绍:

孤立性甲基丙二酸血症(MMA)和丙酸血症(PA)是罕见的遗传代谢性疾病。本文由多学科专家小组共同制定,主要针对MMA和PA的诊断以及管理提供指导建议。

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2021 甲基丙二酸血症和丙酸血症的诊断和管理指南(第1版).pdf
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