Last Updated: 09/26/2026
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Found 81 publications
Use of nucleoside therapy for mitochondrial DNA depletion/deletion syndrome (MDDS).
Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: June 23, 2026
Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency.
Journal: Therapeutic advances in rare disease
Published: January 14, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.
Journal: Molecular genetics and metabolism
Published: November 28, 2025
Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.
Journal: Clinical genetics
Published: November 24, 2025
Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.
Journal: Pediatric dermatology
Published: August 11, 2025
Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.
Journal: Journal of patient-reported outcomes
Published: June 24, 2025
Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis.
Journal: Molecular genetics and metabolism
Published: March 02, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Journal: Neurology
Published: January 30, 2025
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 19, 2024
Last Updated: 09/26/2026