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Updated: Nov 11, 2025

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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
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Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular,
Laurence Carmant1, Aspasia Karalis2, Françoise Rypens3
1Department of Obstetrics and Gynecology CHU Ste-Justine Montreal QC Canada.
Clinical Case Reports
|March 26, 2021
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.
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