A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis

Pearson marrow-pancreas syndrome is a rare multisystem mitochondrial disease that is a result of defective oxidative phosphorylation caused by mitochondrial DNA mutations. The average prognosis of infants diagnosed with this disease is death within four years of age. The disease often carries an aty...

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Detalles Bibliográficos
Autores principales: Shoeleh, Celeste, Donato, Umberto M, Galligan, Andrew, Vitko, Julie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938677/
https://www.ncbi.nlm.nih.gov/pubmed/36820126
http://dx.doi.org/10.7759/cureus.33963

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938677/
https://www.ncbi.nlm.nih.gov/pubmed/36820126
http://dx.doi.org/10.7759/cureus.33963

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