Prenatal Ultrasound and Magnetic Resonance Findings of Glutaric Acidemia Type 1 and Its Challenges in Prenatal Diagnosis
Author:
Affiliation:
1. Department of Fetal Medicine, Taiji Clinic, Taipei, Taiwan
2. Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan
3. School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan
Abstract
Publisher
Medknow
Reference41 articles.
1. Newborn screening: A disease-changing intervention for Glutaric aciduria type 1;Boy;Ann Neurol,2018
2. Experiences during newborn screening for Glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes;Tsai;J Chin Med Assoc,2017
3. Recommendations for diagnosing and managing individuals with Glutaric aciduria type 1: Third revision;Boy;J Inherit Metab Dis,2023
4. Exploring genotype-phenotype correlations in Glutaric aciduria type 1;Schuurmans;J Inherit Metab Dis,2023
5. Pathogenesis of brain damage in Glutaric acidemia type I: Lessons from the genetic mice model;Wajner;Int J Dev Neurosci,2019
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