Last Updated: 09/26/2026
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Found 6 publications
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.
Journal: Journal of the Endocrine Society
Published: July 31, 2020
Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.
Journal: Molecular genetics and metabolism reports
Published: August 26, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 16, 2019
Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.
Journal: Pediatric clinics of North America
Published: March 06, 2018
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Journal: Molecular genetics and metabolism
Published: June 28, 2016
Showing 1-6 of 6
Last Updated: 09/26/2026