Last Updated: 09/26/2026
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Found 5 publications
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Journal: Molecular genetics and metabolism
Published: April 15, 2024
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 29, 2020
Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders.
Journal: Frontiers in genetics
Published: August 25, 2020
Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Journal: Molecular genetics & genomic medicine
Published: June 25, 2020
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.
Journal: Pediatric clinics of North America
Published: March 06, 2018
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Last Updated: 09/26/2026