Listen "Moving towards management guidelines in ALG8 - CDG"
Episode Synopsis
Dr Daniah Albokhari and Dr Andrew Edmondson speak to the podcast about 7 new patients with ALG8-CDG and discuss how their knowledge of the condition helps formulate clinical guidance in this ultra-rare disease.
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines
Daniah Albokhari, et al
https://doi.org/10.1002/jimd.12527
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines
Daniah Albokhari, et al
https://doi.org/10.1002/jimd.12527
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.