Research Articles
The Energy Crisis in Our Muscles: Unraveling the Mystery of CPT II Deficiency
Explore the fascinating science behind Carnitine Palmitoyltransferase II Deficiency, a metabolic disorder affecting fat metabolism in muscles.
Cracking the Metabolic Code: How Urine Tests Reveal a Rare Disease
Discover how capillary LC-MS/MS technology revolutionizes diagnosis of transaldolase deficiency through urine analysis.
The Spanish Puzzle: How Two Forms of Glutaric Aciduria Type I Were Unraveled
Discover how Spanish researchers identified two distinct forms of Glutaric Aciduria type I, revolutionizing diagnosis and treatment for this rare metabolic disorder.