Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia.
Journal: The Journal of clinical investigation
Published: November 04, 2025
Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy.
Journal: Molecular genetics and metabolism reports
Published: August 21, 2025
Two commonly reported incidental variants in OTC are associated with late-onset disease.
Journal: HGG advances
Published: May 19, 2025
Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.
Journal: Molecular genetics and metabolism
Published: May 14, 2025
Reconsidering the Diagnosis: Abnormal Sweat Chloride Tests in Non-CF Bronchiectasis.
Journal: Pediatric pulmonology
Published: May 17, 2024
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
Journal: American journal of medical genetics. Part A
Published: June 20, 2023
Clinical genome sequencing: Three years' experience at a tertiary children's hospital.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 22, 2023
Showing 1-8 of 8
Last Updated: 09/26/2026