Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 6 publications
A novel pretreatment of dried blood spot filter paper to improve the preservation of amino acids: a technology to increase access and care.
Journal: Molecular genetics and metabolism
Published: June 15, 2026
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 12, 2025
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography.
Journal: Molecular genetics and metabolism reports
Published: July 04, 2024
Propionate-induced changes in cardiac metabolism, notably CoA trapping, are not altered by l-carnitine.
Journal: American journal of physiology. Endocrinology and metabolism
Published: July 18, 2018
Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism.
Journal: American journal of physiology. Endocrinology and metabolism
Published: March 23, 2017
Showing 1-6 of 6
Last Updated: 09/26/2026