학술논문
Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping.
Document Type
Article
Author
Source
Subject
*POLYCYSTIC kidney disease
*ULTRASONIC imaging
*PRENATAL diagnosis
*GENETICS
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Language
ISSN
2050-0904
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. [ABSTRACT FROM AUTHOR]