Associated Papers
A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland.
Manoy S et al.
Journal of Paediatrics and Child Health, 2026
Nonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease.
Théberge E et al.
Jacc. Case Reports, 2025
PPA2 deficiency-a rare cause of genetic cardiomyopathy: a case report.
Khetrapal S et al.
European Heart Journal. Case Reports, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
The crystal structure of yeast mitochondrial type pyrophosphatase provides a model to study pathological mutations in its human ortholog.
Bezpalaya EY et al.
Biochemical and Biophysical Research Communications, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families.
Gómez González C et al.
Gene, 2024
Alcohol-Induced Sudden Cardiac Death in a Teenager With PPA2 Gene Mutations.
Graham S et al.
The American Journal of Forensic Medicine and Pathology, 2023
PPA2 Deficiency in 2 Sisters: A Rare Cause of Sudden Cardiac Death.
Genthe W et al.
Jacc. Case Reports, 2023
Only one beer can be mortal: a case report of two sisters with cardiac arrest due to a homozygous mutation in PPA2 gene.
Manzanilla-Romero HH et al.
European Journal of Pediatrics, 2023
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
Sudden unexpected death in asymptomatic infants due to PPA2 variants.
Phoon CKL et al.
Molecular Genetics & Genomic Medicine, 2020
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Kennedy H et al.
American Journal of Human Genetics, 2016
Risk of sudden cardiac death due to inorganic pyrophosphate A2 deficiency in a Pakistani infant: Diagnostic and management challenges in low-resource settings.
Khan FA et al.
Annals of Pediatric Cardiology, 0