Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitlePrenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping.AuthorsCarmant, Laurence; Karalis, Aspasia; Rypens, Françoise; Oligny, Luc; Wavrant, Sandrine; Lapeyraque, Anne‐Laure; Codsi, ElisabethAbstractWe 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.SubjectsPOLYCYSTIC kidney disease; ULTRASONIC imaging; PRENATAL diagnosis; GENETICSPublicationClinical Case Reports, 2021, Vol 9, Issue 3, p1101ISSN2050-0904Publication typeArticleDOI10.1002/ccr3.3663