Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
Partnering Through Uncertainty: A Rare Risk Reveals a Common Need.
Journal: Pediatrics
Published: March 06, 2026
Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.
Journal: Therapeutic advances in rare disease
Published: November 19, 2025
Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway.
Journal: Molecular genetics and metabolism
Published: May 16, 2024
Comparison of 2 Models of Care for Children With Medical Complexity Following Spinal Fusion.
Journal: Clinical pediatrics
Published: January 30, 2024
Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options.
Journal: JIMD reports
Published: October 16, 2023
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Journal: Molecular genetics and metabolism
Published: July 17, 2023
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Journal: Neuromuscular disorders : NMD
Published: June 27, 2023
Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder.
Journal: Clinical chemistry
Published: January 18, 2023
Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 22, 2022
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Journal: Blood
Published: October 21, 2020
Last Updated: 09/26/2026