戊二酸尿症II型的产前表现：一例影像学、临床、生化、分子及病理表型分析的病例报告
Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping.
作者信息
Carmant Laurence, Karalis Aspasia, Rypens Françoise, Oligny Luc, Wavrant Sandrine, Lapeyraque Anne-Laure, Codsi Elisabeth
机构信息
Department of Obstetrics and Gynecology CHU Ste-Justine Montreal QC Canada.
Department of Pediatrics Medical Genetics Service CHU Ste-Justine Montreal QC Canada.
出版信息
Clin Case Rep. 2021 Jan 12;9(3):1101-1103. doi: 10.1002/ccr3.3663. eCollection 2021 Mar.
Abstract
We know that glutaric aciduria type II is an inborn metabolism. This case report highlights that polycystic kidneys with hepatomegaly in prenatal ultrasound are suggestive of glutaric aciduria type II and it identifies a new variant as pathogenic.
摘要
我们知道II型戊二酸尿症是一种先天性代谢疾病。该病例报告强调，产前超声检查发现的多囊肾合并肝肿大提示II型戊二酸尿症，并鉴定出一种新的致病变体。
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