Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B
收藏NIAID Data Ecosystem2026-05-01 收录
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资源简介：
We report the first case of type B PCD in China, presenting with intractable lactic acidosis shortly after birth. Trio-whole exome sequencing was performed.
创建时间：
2023-06-05
