Listen "Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: 3rd revision"
Episode Synopsis
Dr Nikolas Boy joins the podcast to discuss the recently published third revision of the guidelines for the diagnosis and management of Glutaric Aciduria Type 1. Dr Boy explains what has changed, what has stayed the same, and why these changes have happened.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
Nikolas Boy, et al
https://doi.org/10.1002/jimd.12566
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
Nikolas Boy, et al
https://doi.org/10.1002/jimd.12566
More episodes of the podcast JIMD Podcasts
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
30/12/2025
Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
23/12/2025
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
25/11/2025
IMD Research Round-Up: Mitochondrial disease
11/11/2025
ZARZA We are Zarza, the prestigious firm behind major projects in information technology.