Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagno...

Descripción completa

Detalles Bibliográficos
Autores principales: Yoshimi, Ayami, Ishikawa, Kaori, Niemeyer, Charlotte, Grünert, Sarah C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9575259/
https://www.ncbi.nlm.nih.gov/pubmed/36253820
http://dx.doi.org/10.1186/s13023-022-02538-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9575259/
https://www.ncbi.nlm.nih.gov/pubmed/36253820
http://dx.doi.org/10.1186/s13023-022-02538-9

Ejemplares similares