Disease: Sengers Syndrome
- A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder-Sengers Syndrome
- A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy
- Acylglycerol Kinase-Targeted Therapies in Oncology
- Adenine nucleotide translocase: Current knowledge in post-translational modifications, regulations and pathological implications for human diseases
- Advances in Sengers syndrome
- AGK regulates the progression to NASH by affecting mitochondria complex I function
- Biallelic variants in <em>TAMM41</em> are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease
- Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in <em>AGK</em> Gene
- Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene
- Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
- Long term follow-up in two siblings with Sengers syndrome: Case report
- Metabolic Alterations Caused by Defective Cardiolipin Remodeling in Inherited Cardiomyopathies
- Plasma Ferritin as Marker of Macrophage Activation-Like Syndrome in Critically Ill Patients With Community-Acquired Pneumonia
- Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
- Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report
- Structural and functional studies of D109A human alphaB-crystallin contributing to the development of cataract and cardiomyopathy diseases
- Structural and functional studies of D109A human αB-crystallin contributing to the development of cataract and cardiomyopathy diseases
- The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism
- Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin
- Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases
