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Last Updated: 10/31/2025
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Found 54 publications
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.
Journal: Human genomics
Published: November 01, 2024
Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Journal: Neuromuscular disorders : NMD
Published: September 17, 2024
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.
Journal: Molecular genetics & genomic medicine
Published: July 17, 2024
Metabolopathy with characteristic clinical triad: Sengers syndrome.
Journal: Anales de pediatria
Published: June 20, 2024
A neonate with a spongy failing heart - What could it be?
Journal: Annals of pediatric cardiology
Published: December 22, 2023
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Journal: Molecular genetics and metabolism
Published: April 08, 2023
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases.
Journal: JIMD reports
Published: April 08, 2022
Long term follow-up in two siblings with Sengers syndrome: Case report.
Journal: Italian journal of pediatrics
Published: February 28, 2022
AGK regulates the progression to NASH by affecting mitochondria complex I function.
Journal: Theranostics
Published: December 07, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Journal: International journal of molecular sciences
Published: November 20, 2021
Last Updated: 10/31/2025