Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.
Journal: Molecular genetics and metabolism
Published: January 19, 2026
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
Journal: HGG advances
Published: November 02, 2025
Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings.
Journal: Clinical case reports
Published: March 04, 2024
A novel syndrome associated with prenatal fentanyl exposure.
Journal: Genetics in medicine open
Published: June 26, 2023
The development of end stage renal disease in two patients with PMM2-CDG.
Journal: JIMD reports
Published: November 05, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Journal: Annals of neurology
Published: July 06, 2021
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.
Journal: Cell reports
Published: November 16, 2020
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.
Journal: Journal of inherited metabolic disease
Published: November 03, 2019
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
Journal: American journal of medical genetics. Part A
Published: September 06, 2019
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Journal: Pediatric clinics of North America
Published: March 06, 2018
Showing 1-10 of 10
Last Updated: 09/26/2026