Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 33 publications
Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.
Journal: American journal of medical genetics. Part A
Published: May 06, 2026
Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease.
Journal: ACG case reports journal
Published: July 22, 2025
Radiation therapy in a ductal carcinoma in situ patient with ornithine transcarbamylase deficiency: a case report.
Journal: Radiation oncology journal
Published: July 17, 2025
Elevated cerebrospinal fluid 2-Hydroxybutyric acid in two siblings with aspartate-glutamate carrier 1 deficiency.
Journal: Molecular genetics and metabolism
Published: July 05, 2025
An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency.
Journal: Molecular genetics and metabolism reports
Published: March 13, 2024
Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy.
Journal: Molecular genetics and metabolism reports
Published: January 29, 2024
Twin Premature Infants With Riboflavin and Biotin Deficiency Presenting With Refractory Lactic Acidosis, Rash, and Multiorgan Failure During Prolonged Parenteral Nutrition.
Journal: Journal of investigative medicine high impact case reports
Published: April 22, 2023
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Journal: American journal of human genetics
Published: July 27, 2020
Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas.
Journal: Journal of pediatric genetics
Published: May 01, 2020
Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children's hospital (1991-2017).
Journal: Ultrastructural pathology
Published: January 05, 2020
Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis.
Journal: Pediatric nephrology (Berlin, Germany)
Published: December 11, 2019
Reduction of large soft-tissue Gaucheromas with substrate reduction therapy.
Journal: Journal of inherited metabolic disease
Published: August 28, 2019
Last Updated: 09/26/2026